Basic Science 2012 Mrcppass

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BasicScience

elzohryxp@yahoo.com https://www.facebook.com/elzohryxp
May2012

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BasicScience
BasicScienceQ001
A 30 year old patient develops haemolytic anaemia, which is thought to be due to penicillintreatment. Whichisthecorrecttypeofhypersensitivityreactiontodescribethis?
A.TypeI B.TypeII C.TypeIII D.TypeIV E.TypeV
Answer:b)TypeII. DruginducedhaemolyticanaemiaisduetoatypeIIhypersensitivityreaction.Thetypes are: TypeIAnaphylaxisduetoIgEfrommastcellsandinvolvingbasophils Type II Cytotoxic due to free antibodies in the circulation (usually IgG, IgM and IgA) leading to cell lysis due to antigenantibody crosslinking and complement fixation TypeIIIImmunecomplexdepositionassociatedwithcirculatingIgG Type IV Cellmediated due to interaction between T cells and membranebound antigens
Dr.KhalidYusufElzohrySohagTeachingHospital2012 2
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BasicScience
BasicScienceQ002
WhichredbloodcellantigenisinvolvedinentryofPlasmodiumvivaxintoredcells?
A.RhesusS B.RhesusD C.Duffy D.GP24 E.Kell
Answer:C)Duffy Duffy negative patients are resistant to developing plasmodium vivax infection. The DuffyantigenreceptorfacilitatesentryofPlasmodiumVivaxintoredbloodcells.
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BasicScienceQ003
A20yearoldmanhasbeennewlydiagnosedwithGaucher'sDisease.Thisisassociated withadeficiencyofwhichoneofthefollowingenzymes?
A.Glucocerebrosidase B.Sphingomyelinase C.Iduronidase D.HexosaminidaseA E.ArylsulphataseA
Answer:a)Glucocerebrosidase. Gaucher's disease is associated with the enzyme glucocerebrosidase. As a result, glucocerebroside accumulates, principally in the phagocytic cells of the body but also sometimesinthecentralnervoussystemneurones. Three types of Gaucher disease are described. Common to all three types are the presence of hepatosplenomegaly and of large glucocerebroside containing reticuloendothelialhistiocytes,orGauchercells,inthebonemarrow. Theotherassociationsare: TaySachsdiseaseHexosaminidaseAdeficiency NiemannPickdiseaseSphingomyelinasedeficiency MetachromaticleukodystrophyArylsulphataseAdeficiency Hurler'ssyndromeIduronidasedeficiency
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BasicScienceQ004
WhichofthefollowingdiseasesisXlinkedinherited?
A.Alpha1antitrypsindeficiency B.Haemochromatosis C.Marfan'ssyndrome D.G6PDdeficiency E.Wilson'sdisease
Answer:d)G6PDdeficiency. G6PD deficiency's inheritance is X linked recessive. Duchenne muscular dystrophy is another example of a disease which has X linked recessive inheritance. X linked hypophosphataemicricketsisXlinkeddominant.
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BasicScience
BasicScienceQ005
A 22 year old male who is tall and thin, is found to have a high arched palate, downw arddislocationoflens,chestwalldeformitiesandlivedoreticularis. Whichoneofthefollowingisalsoassociatedwiththissyndrome?
A.Fibrillingenedefect B.PositiveGuthrietest C.AutosomalDominantinheritance D.Osteopetrosis E.Methionineaccumulation
Answer:e)Methionineaccumulation. The diagnosis is homocystinuria (Marfan's causes upw ards lens dislocation and fibrillin gene defect). Homocystinuria is an autosomal recessive disorder. Reduced activity of cystathionine synthase results in accumulation of homocysteine methionine. Osteoporosisandosteopetrosisarealsoseeninhomocystinuria.
MetabolismofHomocysteine
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BasicScience
BasicScienceQ006
ApostgraduatestudentisstudyingHIVreplication. WhichofthefollowingisimportantinthereplicationortransmissionofHIV1?
A.Trypsin B.Bax C.GP120 D.P53 E.MHC
Answer:c)GP120. HIV reverse transcriptase, integrase and protease are key enzymes essential for HIV replication.TheHIVgenomecontainsthegenes:tatandrevalongwithnef,env,gagand pol. The GP 120 is the major protein on the surface of HIV that interacts with host cells. HIV binds to cell surface CD4 but enters cells through chemokine receptors including CXCR4andCCR5.Thymidinekinaseisproducedbytheherpessimplexvirus.
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BasicScience
BasicScienceQ007
Which of the following anatomical structures, if damaged, leads to choreiform movementabnormalities?
A.Caudatenucleus B.Subthalamicnucleus C.Substantianigra D.Hippocampus E.Corpuscallosum
Answer:a)caudatenucleus. Caudate nucleus, putamen and globus pallidus are areas within the basal ganglia which, when impaired, can lead to choreiform movements. Subthalamic nucleus lesion causes hemiballismus.Hippocampusinvolvementcancausememoryloss.
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BasicScienceQ008
A 35 year old man presents with bleeding oesophageal varices. On examination he has KayserFleischerringsinthecornea.Theinheritanceofthisdisorderis:
A.Polygenicinheritance B.Xlinkeddominant C.Xlinkedrecessive D.Autosomalrecessive E.Autosomaldominant
Answer:d)Autosomalrecessive. ThediagnosisisWilsonsdisease,whichhasautosomalrecessiveinheritance.
KayserFlescherRinginWilson'sdisease
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BasicScience
BasicScienceQ009
Whichoftheseisthecorrectdescriptionofpeptidebonds?
A.Bondsbetween2carboxylicacidgroupsofaminoacids B.Hydrogenbondsbetween2sidechainsofaminoacids C. Bonds between the carboxylic acid group of one amino acid and the amino group of thenext D.Bondsbetweenalternatingpurineandpyrimidinemolecules E.Covalentbondsbetweentwoaminoacids
Answer: c) bonds between the carboxylic acid group of one amino acid and the amino groupofthenext. Peptide bonds are linkages between the carboxylic acid (COOH) group of one amino acidandtheamino(NH2)groupofthenextaminoacid.
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BasicScience
BasicScienceQ010
A 45 year old man with a new diagnosis of hepatitis B is keen to know more about the prognosisofthedisease. Whatpercentageofpatientsislikelytodevelopchronicinfection?
A.100% B.80% C.50% D.10% E.5%
Answer:d)10%. The virus can be found in other cell types apart from hepatocytes, such as renal tubular cells. 10% of patients with hepatitis B develop chronic infection as compared to hepatitis C where 80% develop chronic infection. The likelihood of virus clearance increaseswithbettercellmediatedimmuneresponses.
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BasicScience
BasicScienceQ011
A25yearoldmanwithcysticfibrosisisreferredforinvestigationofpoorfertility. Whatislikelytohavecausedthis?
A.Malabsorptionandvitamindeficiency B.Abnormaloestrogenmetabolism C.Acidificationofseminalfluid D.Hypopituitarism E.Failureofdevelopmentofvasdeferens
Answer:E)Failureofdevelopmentofvasdeferens Infertilityincysticfibrosisisduetomaldevelopmentofvasdeferens.
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BasicScience
BasicScienceQ012
Achildhasanendocrineconditionwhichhascausedshortstature. Whichofthefollowingconditionsmaybedetectablebygrowthmonitoring?
A.Thyrotoxicosis B.Pseudohypoparathyroidism C.Hypothyroidism D.Insulindependentdiabetesmellitus E.XYYSyndrome
Answer:c)Hypothyroidism. Growthmonitoringcanaiddetectionofthefollowingconditions: hypothyroidism growthhormoneinsufficiency Turners&Noonan'ssyndrome,skeletaldysplasias coeliacdisease,inflammatoryboweldisease intracranialtumours

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BasicScienceQ013
A 35 year old lady has psychogenic diabetes insipidus. Her blood results show sodium 124 mmol/l; potassium 4.0 mmol/l; Urea 5 mmol/l; Creatinine 30 mmol/l; Glucose 8 mmol/l. Whatistheserumosmolality[mosmol/Kg]?
A.255 B.261 C.264 D.278 E.284
Answer:b)261. Serum osmolality is 2 X sodium + Urea + Glucose = 248 + 5 + 8 = 261 mOsmol/Kg. Normalis280to305henceshehaslowserumosmolality.Analternativeformulais1.9x (Na+K)+Ur+Glucose.
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BasicScience
BasicScienceQ014
Which one of the following set of offsprings would a Xlinked dominant condition be transmittedto?
A.Noneofthesonsofanaffectedwoman B.Halfofthedaughtersofanaffectedwoman C.Allofthesonsofanaffectedwoman D.Allchildrenofanaffectedwoman E.Allchildrenofanaffectedman
Answer:b)Halfofthedaughtersofanaffectedwoman. The classical example of an Xlinked dominant inherited condition is familial hypophosphataemic rickets. Remember to differentiate between X linked recessive and Xlinkeddominant. An affected woman has the chromosomes XxX and will transmit this to half of her daughterswhowilleitherhave XX or XxX chromosomes. Similarly, half of the sons will have the disease XxY or XY chromosomes.
Xlinkeddominantinheritancewithanaffectedmother
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BasicScienceQ015
WhichoneoftheseconditionsisanAutosomalDominantdisorder?
A.AtaxiaTelangiectasia B.Achondroplasia C.Alkaptonuria D.CysticFibtosis E.Phenylketonuria
Answer:b)Achondroplasia. Thelistofautosomaldominantdisordersare: achondroplasia antithrombinIIIdeficiency EhlersDanlossyndrome Familialhypercholesterolaemia Gilbert'sdisease hereditaryhaemorrhagictelangiectasia hereditaryelliptocysis,hereditaryspherocytosis Huntington'sdisease idiopathichypoparathyroidism intestinalpolyposis marblebonedisease Marfan'ssyndrome neurofibromatosis polycystickidneydisease(adult) proteinCdeficiency osteogenesisimperfecta TreacherCollinssyndrome tuberoussclerosis VonWillebrand'sdisease
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BasicScienceQ016
Whatistheeffectofleptinonbodymetabolism?
A.Decreasesenergyusage B.StimulatesneuropeptideY C.Increasesappetite D.Stimulatespancreaticproteases E.Reducesadiposetissuemass
Answer:E)reducesadiposetissuemass Leptin is expressed by adipocytes and mediate effects via the hypothalamic centre which controls hunger and energy expenditure. It inhibits neuropeptide Y (which is a potent appetite stimulator), increases oxygen consumption, body temperature and reducesadiposetissuemass.
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BasicScienceQ017
A65yearoldmanhasaparietallobeinfarct. Whichoneofthefollowingisalikelymanifestation?
A.Fingeragnosia B.Homonymoushemianopia C.Bitemporalhemianopia D.Expressivedysphasia E.Dysdiadochokinesis
Answer:a)fingeragnosia. Parietallobesignsare: lossoftwopointdiscrimination agraphia fingeragnosia astereognosis dyslexia Gerstmannsyndrome receptivedysphasia dressingandconstructionaldyspraxia Gerstmann syndrome includes four features (acalculia, agraphia, finger agnosia, left rightdisorientation),andisduetoalesioninthedominanthemisphere.
TestingforFingerAgnosia(inabilitytodiscriminatedifferentfingers)
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BasicScience
BasicScienceQ018
An18yearoldballetdancerpresentstoA&Eunwell.Shehaspoordentition. HerarterialpHis7.44andshehasapCO2of6kPaandpO2of10kPa.Herchlorideis85 (95107)mmol/l,HCO3is30(2028)mmol/l. Whichofthefollowingdescribesheracidbasebalance?
A.Respiratoryacidosiswithmetaboliccompensation B.Respiratoryalkalosiswithmetaboliccompensation C.Metabolicacidosiswithrespiratorycompensation D.Metabolicalkalosiswithrespiratorycompensation E.Normalaniongapmetabolicacidosis
Answer:d)metabolicalkalosiswithrespiratorycompensation. This patient is bulimic and has lost HCl from excessive vomiting. She has metabolic alkalosiswhichiscompensatedbyhypoventilation(hencelowpO2andhighCO2).
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BasicScienceQ019
Which one of following biochemical abnormalities would be most commonly seen in a diagnosisofBartterssyndrome?
A.Hypochloraemia B.Hyperkalemia C.Hyponatraemia D.Hypokalemia E.Acidosis
Answer:D)Hypokalemia Bartterssyndromeischracterisedby: hypokalaemicalkalosis,elevatedreninandaldosteronelevels

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BasicScience
BasicScienceQ020
A man who has common variable immunodeficiency comes to see the doctor in the geneticsclinicwithhisgirlfriend.Theywouldliketostartafamily. Whatistheprobabilitythathischildrenwillinherithisdisease?
A.<10% B.25% C.50% D.75% E.100%
Answer:a)<10%. Common Variable Immunodeficiency (CVID) is a disorder characterized by low levels of serum immunoglobulins and an increased susceptibility to infections. A clear mode of inheritanceisnotdefined(therearemultiplemodes)andhencethereisa<10%chance ofpassingonthedisease.
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BasicScienceQ021
Transcription RNA (tRNA) has three bases specific to a particular amino acid, which it bindstomessengerRNA(mRNA).ThisspecificareaoftRNAknownas:
A.Codon B.Intron C.Anticodon D.Transposon E.Exon
Answer:c)anticodon. Transfer RNA (tRNA) is a small RNA chain (7493 nucleotides) that transfers a specific amino acid to a grow ing polypeptide chain at the ribosomal site of protein synthesis during translation. It has sites for aminoacid attachment and codon (a particular sequence of 3 bases) recognition. The codon recognition is different for each tRNA and is determined by the anticodon region, which contains the complementary bases to the onesencounteredonthemRNA.EachtRNAmoleculebindsonlyonetypeofaminoacid, butbecausethegeneticcodeisdegenerate,morethanonecodonexistsforeachamino acid.
AnticodonandCodon
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BasicScienceQ022
WhichoneoftheseorganelleshaveDNAwhichcanselfreplicate?
A.Golgiapparatus B.Nuclearmembrane C.Mitochondria D.Peroxisomes E.Transcriptionfactors
Answer:c)mitochondria. OnlymitochondriahaveselfreplicatingDNA
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BasicScience
BasicScienceQ023
A 25 year old woman was referred for investigation of iron deficiency anaemia. Her motherdiedaged35yearsfromcoloniccarcinomaandhadPeutzJeghersyndrome. WhichisthelikelymodeofinheritanceofPeutzJegherssyndrome?
A.Autosomaldominant B.Autosomalrecessive C.Xlinkeddominant D.Xlinkedrecessive E.Mitochondrial
Answer:a)Autosomaldominant. Peutz Jegher syndrome is an autosomal dominant condition associated with pigmentation,mainly,ofthelips,buccalmucosa,genitalia,handsandfeet. Inaddition,therearemultiplehamartogenouspolypsofthegastrointestinaltractmost often in the small bow el but may occur affect any portion of the GI tract.The polyps themselves have a very low malignant potential. About 1020% of patients develop gastrointestinalcarcinoma,butthereisalsoincreasedriskofpancreatic,lungandbreast carcinoma.
MucosalPigmentationinPeutzJegherSyndrome
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BasicScience
BasicScienceQ024
ThemainhistologicalabnormalityinHuntington'sdiseaseisseeninthe:
A.Caudatelobe B.Midbrain C.Rednucleus D.Inferiorcolliculus E.Hippocampus
Answer:a)Caudatelobe. The main histological abnormality in Huntingtons chorea is seen in the caudate lobe andputamenwherethereisextensiveneuronalloss.
Caudatenucleus/lobe
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BasicScienceQ025
Atsympatheticnerveendingswhathappenstothemajorityofamountofnoradrenaline followingdepolarisation?
A.Reuptakebythenerveterminalending B.Breakdownbymonoamineoxidase C.Conversiontoadrenaline D.Staysatthenervejunction E.RecycledbycatecholOmethyltransferase
Answer:a)reuptakebythenerveterminalending. Most noradrenaline is taken up back into neurosecretory granules. MAO and COMT metaboliseNAinsmallamounts.
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BasicScienceQ026
A 62 year old man with epigastric pains and weight loss is suspected of having pancreaticcarcinoma. Whichoneofthefollowingmarkersisuseful?
A.Alphafetoprotein B.CA19.9 C.CA125 D.Prostatespecificantigen E.Carcinoembryonicantigen
Answer:B)CA19.9 CA 19.9 is found in 7090% of patients with pancreatic carcinoma. CA125 and CEA may alsobepositivebutarelessfrequentlyso.
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BasicScienceQ027
TheRETProtooncogeneisassociatedwithwhichoneofthefollowing?
A.Insulinoma B.Anaplasticthyroidcarcinoma C.Bronchialcarcinoma D.Medullarythyroidcarcinoma E.Pituitarytumour
Answer:D)Medullarythyroidcarcinoma. The RET protooncogene is associated with multiple endocrine neoplasia MEN2A, MEN2Bandmedullarythyroidcarcinoma1,Hirschsprungdisease.
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BasicScience
BasicScienceQ028
Ayoungmanpresentswithfeversandhasseveralbloodtests. Whichoneofthefollowing,ifincreased,suggestsinfection?
A.Albumin B.Transferrin C.Ferritin D.Alpha2macroglobulin E.Leptin
Answer:C)Ferritin. Ferritiniswellknownasanacutephaseproteinwhichisincreasedinsepsis.
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BasicScience
BasicScienceQ029
A 62 year male presents with bilateral neuropathic leg pains. There was relevant past history of excess alcohol use. He is currently on oral thiamine and omeprazole. On examination, both knee reflexes are reduced and there is reduced sensation to fine touchinbothfeet. Whatisthenextbestinvestigationtoconfirmthediagnosis?
A.EMG B.ChestXray C.CThead D.CTspine E.Bloodsugar
Answer:E)Bloodsugar The clinical features are consistent with a diagnosis of peripheral neuropathy and althoughhehasanotherpossiblecauseduetoalcohol,diabetesneedstobeexcluded.
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BasicScienceQ030
A65yearoldMediterraneanmanwhohaslegcrampsisstartedonquinine.Hepresents 10 days later, with a history of darkened urine, increasing breathlessness, back pains and fatigue. Investigations show a haemoglobin of 6.5 g/dl and raised reticulocyte count. Whichofthefollowingbestexplainsthisdrugreaction?
A.Hereditaryspherocytosis B.Hereditaryelliptocytosis C.Autoimmunehaemolyticanaemia D.Pyruvatekinasedeficiency E.Glucose6phosphatedehydrogenasedeficiency
Answer:e)glucose6phosphatedehydrogenasedeficiency. Glucose 6 phosphate dehydrogenase deficiency (X linked recessive) is seen in African, Mediterranean,Iraqi,JewandSouthEastAsianChinesepeople. Itpredisposestoahaemolyticanaemiareactiontodrugsandinfection.Implicateddrugs includeaspirin,sulphonamides,antimalarialsandquinidine.
BloodfilmshowinghaemolysisinG6PDdeficiency
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BasicScience
BasicScienceQ031
A 40 year old female presents with a movement disorder. There is a family history of Huntingtons chorea and the family is worried that she may be developing this condition. Whatisitsinheritance?
A.Autosomalrecessive B.Autosomaldominant C.Mitochondrialinheritance D.Xlinkedrecessive E.Xlinkeddominant
Answer:b)Autosomaldominant. Huntingtonschoreaisinheritedasanautosomaldominanttrait.
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BasicScienceQ032
A 60 year old man has numbness and tingling of the upper outer part of the left thigh. Onexamination,thereissensoryimpairmentovertheanterolateralaspectofthethigh. Whereisthelesion?
A.Sacralnerve B.Lateralcutaneousnerveofthigh C.Pudendalnerve D.Femoralnerve E.Sciaticnerve
Answer:b)Lateralcutaneousnerveofthigh. The diagnosis is meralgia paraesthetica, an entrapment neuropathy of the lateral cutaneous nerve of the thigh as it passes under the inguinal ligament. Obesity is a risk factorforthecondition.
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BasicScienceQ033
Which of the following haematological disorders is inherited as an autosomal recessive condition?
A.Acuteintermittentporphyria B.AntithrombinIIIdeficiency C.Pyruvatekinasedeficiency D.Glucose6phosphatedehydrogenasedeficiency E.ProteinCdeficiency
Answer:c)Pyruvatekinasedeficiency. Pyruvate kinase deficiency is a rare congenital haemolytic anaemia inherited as an autosomalrecessivemanner. Theothercondition'sinheritanceare: Acuteintermittentporphyriaautosomaldominant Antithrombin3(AT3)autosomaldominant Glucose6phosphatedehydrogenasedeficiencyXlinkedrecessive ProteinCdeficiencyautosomaldominant
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BasicScienceQ034
A 22 year old lady has had several episodes w heezing with associated flushing of the face,lipsandhandswellingoverthepastfewyears. Whatinvestigationshouldbedone?
A.C1esteraseinhibitorlevel B.Skinpatchtestwithlatex C.Skinpricktestwithlatex D.SerumANCA E.Rheumatoidfactor
Answer:A)C1esteraseinhibitorlevel Hereditary angioneurotic oedema is an autosomal dominantly inherited condition caused by a deficiency of C1 esterase inhibitor. The main clinical feature is the intermittentoedemaintheskinaroundtheface,hands,feet,larynxandgastrointestinal tract. Laryngeal oedema may cause wheezing. The C2 and C4 level are low in between attacks and C3 is normal. There are 2 varieties of the disorder. Type I is most common and results from an abnormally low level of normal C1INH. Type II results from normal or abnormally elevated levels of a dysfunctional C1INH. In both types of the disease, initial proteolytic components of the complement cascade (eg, C1r, C1s) go relatively unopposedandleadtothecharacteristicpresentationandlaboratoryabnormalities(eg, lowlevelsofC2andC4).
Swollenlipinhereditaryangioedema
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BasicScience
BasicScienceQ035
A 32 year old lady is admitted with a history of epistaxis. Investigations reveal iron deficiency anaemia. On examination, multiple telangiectasia are noted around her lips andinhermouth. Whatisthemodeofinheritanceforthecondition?
A.Polygenicinheritance B.Autosomalrecessive C.Autosomaldominant D.AutosomaldominantXlinkedrecessive E.Xlinkeddominant
Answer:c)Autosomaldominant. The patient has the features of hereditary haemorrhagic telangiectasia (OslerRendu Webersyndrome)whichhasautosomaldominantinheritance.
Hereditaryhaemorrhagictelangiectasia
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BasicScienceQ036
Whichofthefollowingstatementsdescribesthiskaryotype46XX,t(4;8)(q26;p21.3)?
A. Transversion between the long arm of chromosome 4 (q) and the short arm of chromosome8(p) B.Transversion between the short arm of chromosome 4 (q) and the short arm of chromosome8(p) C. Transversion between the long arm of chromosome 4 (p) and the short arm of chromosome8(q) D.Translocation between the short arm of chromosome 4 (q) and the long arm of chromosome8(p) E.Translocation between the long arm of chromosome 4 (q) and the short arm of chromosome8(p)
Answer: e) translocation between the long arm of chromosome 4 (q) and the short arm ofchromosome8(p). The karyotype 46 XX, t (4;8)(q26;p21.3) describes a female with a normal number of chromosomes but a translocation between the long arm of chromosome 4 (q) and the shortarmofchromosome8(p).
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BasicScienceQ037
A 28 year lady presents multiple caf au lait spots. A diagnosis of neurofibromatosis type1made. WhichofthefollowingistrueregardingtheNF1genesinheritanceandlocation?
A.Inheritedinanautosomalrecessivefashion B.InheritedinanXlinkedfashion C.Foundonchromosome17 D.Foundinthemitochondrialgenome E.IsidenticaltotheNF2gene
Answer:C)Foundonchromosome17 NeurofibromatosiscanbeduetoadefectofeithertheNF1orNF2gene. TheNF1geneisfoundonchromosome17inheritedinanautosomaldominantfashion. TheNF2geneisfoundonChromosome22.

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BasicScienceQ038
Regarding two loci A and B, which are in linkage disequilibrium, which one of the followingstatementsistrue?
A. The inheritance of an allele at A will almost certainly exclude the inheritance of one oftheallelesatB B.Thedegreeoflinkagedisequilibriumcanbehighlyvariable C. The four alleles at A and B are inherited independently provided that the population isofsufficientsize D.ThelociAandBarenotlinked E.Itisarandomassociationofallelesinabreedingpopulation
Answer:b)Thedegreeoflinkagedisequilibriumcanbehighlyvariable. Linkage disequilibrium is a nonrandom association of alleles in a breeding population. The loci A and B are likely to be linked. Hence inheritance of an allele A usually occurs withtheinheritanceofalleleB(ratherthanexcluded).Theinheritanceisstilldependent despite population size. Linkage disequilibriumalmost always occurs between allelesat genetic locithatare closely linked in thegenome. The degree of linkageequilibriumcan however,behighlyvariable.
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BasicScienceQ039
McArdle's disease is a genetic defect in the phosphorylase enzyme, which affects the breakdownofglycogen. Whatisglycogenmadeupof?
A.Chainsofglucoseresidues B.Chainsoffructoseresidues C.Chainsofsucroseresidues D.Chainsofgalactoseresidues E.Chainsofalternatinggalactoseandglucoseresidues
Answer:a)Chainsofglucoseresidues. The structure of glycogen consists of long polymer chainsofglucose units connected by an alpha acetal linkage. Chains of glucose residues are linked in glycogen by alpha 1,4 glycosidic bonds (i.e. between the first carbon atom C1 of one glucose and the fourth carbonatomC4ofthenext).
Glycogenpolymerofglucosemolecules
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BasicScienceQ040
ApatientwithAngelman'ssyndromeexpressesgenomicimprinting. Whatdoesthismean?
A.Thattwogenesareinheritedtogether B.Thatageneismitochondriallyinherited C.Theseverityofadiseaseworsensfromgenerationtogeneration D.Thatonealleleofageneisnotexpressed E.Thedifferentialexpressionofallelesisdependentontheirparentalorigin
Answer:e)thedifferentialexpressionofallelesisdependentontheirparentalorigin. Genomic imprinting is the term used to refer to the differential expression of alleles dependentontheirparentalorigin. An example is when the same gene having different phenotypic expression is due to either maternal inheritance (e.g. PraderWilli syndrome) or due to paternal inheritance (e.g.Angelmanssyndrome).
Genomic Imprinting the same gene has different phenotypic expression depending on whetheritismaternallyorpaternallyinherited
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BasicScienceQ041
A 25 year old patient with acquired Factor VIII deficiency was given a monoclonal antibodydrugfollowinganepisodeofseverebleeding. Whichoneoftheseisthelikelydrug?
A.Prednisolone B.Cyclosporin C.Enoxaparin D.Rituximab E.Cyclophosphamide
Answer:d)Rituximab. Rituximab is a chimeric,human IgG1monoclonalantibodyspecificfortheCD20 antigen expressed on the surface of B lymphocytes. The antibody is known to induce rapid in vivo depletion of both normal B lymphocytes and lymphoma B cells. The drug's limited toxicity has led to the recent use of rituximab for the treatment of autoimmune disorders, anticipating a decrease in antibody production by CD20+ B cells. Examples include ITP, autoimmune hemolytic anaemia, and acquired hemophilia A (factor VIII deficiency). Monoclonal antibodies are made by fusing a mouse B cell with myeloma cell line. Antibodies can be purified and cell lines are grown in vitro. The antibodies can be used tomeasurehormonelevelswithimmunoassays.
ProducingMonoclonalAntibodies
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BasicScienceQ042
A55yearold carpenterhaspainin his shoulder.On examination, therewaspainduring resistanceofabduction. Whichmuscleislikelytobeinvolved?

A.Infraspinatus B.Supraspinatus C.Pectoralismajor D.Teresminor E.Latissimusdorsi
Answer:B)supraspinatus. Supraspinatus tendonitis is also known as rotator cuff syndrome. Supraspinatus tendinitis typically affects patients between 40 and 60 years of age following prolonged or excessive use of the shoulder. Pain is usually more severe but of shorter duration in younger patients due to a more vigorous repair process. Pain is felt in the shoulder and over the deltoid muscle but there is no obvious outw ard sign of inflammation or swelling.Thereispainonactiveorresistedabduction.
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BasicScienceQ043
A25yearoldmanhastheconditionMELAS. Whichoneofthefollowingisafeatureofthedisease?
A.Cardiacarrhythmia B.Colourblindness C.Hirsutism D.Lacticacidosis E.Ketoacidosis
Answer:d)lacticacidosis. Mitochondrial disorders such as MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke) and MERRF have muscle, brain, nerve and pancreatic involvement. With pancreatic and muscle involvement, diabetes and lactic acidosis can occur,butketoacidosisisinfrequent.
Scatteredabnormal,vacuolatedfiberswithclearriminMELAS:H&Estain
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BasicScienceQ044
Which nerve lesion causes weakness of biceps, coracobrachialis and brachialis and sensorylossoverthelateralaspectoftheforearm?
A.Radialnerve B.Brachialnerveroot C.Axillarynerve D.C5andC6root E.Musculocutaneousnerve
Answer:e)Musculocutaneousnerve. The musculocutaneous nerve suppleis the biceps, coracobrachialis and brachialis muscles.Italsosuppliessensationoverthelateralaspectoftheforearm.
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BasicScienceQ045
A 35 year old male presents with oral and genital mucocutaneous ulcerations. He also has associated polyarthritis affecting the lower limbs. He is currently on an recent episodeofpulmonaryembolism. Whichofthegeneticassociationiscommonwithsuchapresentation?
A.HLAA3 B.HLADR2 C.HLADR3 D.HLAB27 E.HLAB5
Answer:e)HLAB5. The features of genital and oral ulceration, as well as prothrombotic states are consistentwithBehcet'sdisease.Familialoccurrencehasbeenreportedanditseemsto occur inpatientsfromeasternMediterraneancountriesandJapan. The diseaseappears tobelinkedtoHLAB5,HLAB51andHLADR5alleles.
OralUlcerationinBehcet'sDisease
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BasicScience
BasicScienceQ046
A65yearold manwasadmittedwith anexacerbationof chronic obstructive pulmonary disease. His arterial blood gases on air showed pH 7.29, Paco2 8.5 kPa, Pao2 8.0 kPa, and standardbicarbonate30.5mmol/l. Whatistheacidbasedisturbance?
A.Metabolicalkalosis B.Highaniongapmetabolicacidosis C.Normalaniongapmetabolicacidosis D.Respiratoryalkalosis E.Respiratoryacidosis
Answer:e)Respiratoryacidosis. This patient had an acidosis with a high PaCO2 and normal standard bicarbonate respiratory acidosis. This is a common finding in acute exacerbations of chronic obstructivepulmonarydisease,especiallywithtypeIIrespiratoryfailure.
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BasicScienceQ047
Whichofthefollowinganatomicalstructuresislikelytocausechorea,ifdamaged?
A.Hippocampus B.Subthalamicnucleus C.Thalamus D.Caudatenucleus E.Substantianigra
Answer:d)caudatenucleus. Damage to the caudate nucleus is most likely to cause chorea. This is involved in Huntington'schorea.
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BasicScienceQ048
A60yearoldwomanhashyponatraemia.Followinginvestigation,shewasdiagnosedas havingSIADH. Whichofthefollowingisthemostlikelycause?

A.Ramipril B.Ibuprofen C.Chlorpromazine D.Alcohol E.Atenolol
Answer:c)chlorpromazine. SIADH can be caused by many drugs (mnemonic starting with C) carbamazepine, chlorpropramide, cyclophosphamide, chlorpromazine and clomipramine (i.e. neurolepticsandantidepressantsincludingSSRIs).AlcoholdecreasesADHrelease.
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BasicScience
BasicScienceQ049
A40yearolddiabeticpatientoverdosedon30tabletsofanunknownmedication. She has blood gases showing a pH of 7.32, pO2 of 16 kPa and pCO2 of 3 kPa. Her HCO3 is8mmol/landbaseexcessis5. Whatisthelikelyscenario?
A.Metabolicacidosiswithrespiratorycompensation B.Metabolicalkalosiswithrespiratorycompensation C.Respiratoryacidosiswithmetaboliccompensation D.Respiratoryalkalosiswithmetaboliccompensation E.Normalaniongapmetabolicacidosis
Answer:a)metabolicacidosiswithrespiratorycompensation. Thepatientislikelytohaveoverdosedonmetforminandhasmetabolicacidosis.ThepH isacidoticandsheishyperventilatingforrespiratorycompensationofacidbasebalance, hencethelowCO2andhighO2

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BasicScienceQ050
A 50 year old lady has pain in her right leg. On examination, there was weakness of her right ankle and absent right ankle jerk. She also had sensory loss over the lateral aspect ofherankle. Whichofthesenervelesionsislikely?
A.Deepperonealnerve B.Femoralnerve C.Sciaticnerve D.Lumbosacralplexus E.Inferiorglutealnerve
Answer:c)sciaticnerve. Thesciaticnervebranchesintothetibialnerveandcommonperonealnerve.Damageto thesebrancheswillcausealmosttotalweaknessaroundtheankleandabsentanklejerk.
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BasicScienceQ051
Whichformofnervedamageleadstocompleteinabilitytoraisethearmattheshoulder withsensorylossoverthedeltoid?
A.Lateralcutaneousnerve B.Axillarynerve C.Radialnerveintheaxilla D.Suprascapularnerve E.C5andC6ofthebrachialnerveplexus
Answer:b)Axillarynerve. The axillary nerve supplies the deltoid and teres minor as well as the skin over the deltoid.
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BasicScienceQ052
A40yearoldmanpresented2yearsagowithaninheritedneurologicaldisordercausing weakness.Hisfatherdevelopedthediseaseinhis70sandhisdaughterwasborn5years agowithasevereformofthecondition.Hismother,sister,wifeandsonareunaffected. Whatisthelikelymodeofinheritance?

A.Autosomaldominant B.Autosomalrecessive C.Xlinkedinheritance D.Trinucleotiderepeatdisease E.Mitochondrialinheritance
Answer:d)Trinucleotiderepeatdisease. The inheritance showing increasing disease severity with earlier onset of disease in subsequent generations is called anticipation. This is typical of trinucleotide repeat disease where there is expansion of repetitive sequence of three nucleotides with each generation. Typicalexamplesare: Huntington'sdisease,myotonicdystrohpy,fragileXsyndrome&Friedriech'sataxia.
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BasicScienceQ053
A20yearoldpatienthasbeenkickedintheshinduringanaggressivefootballmatch.He isunabletoeverthisfootanddorsiflexhisankle. Whichnerveisinjured?

A.Femoralnerve B.Saphenousnerve C.Glutealnerve D.Commonperonealnerve E.Anteriortibialnerve
Answer:d)commonperonealnerve. The peroneal muscles around the lateral part of the shin help to dorsiflex the ankle, extend the toes and evert the foot. They are supplied by the common peroneal nerve. The common peroneal nerve is a branch of the sciatic nerve. The manner in which the commonperonealnervesnakesaroundthefibularheadexposesittoinjury.
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BasicScienceQ054
A 10 year old boy with blue sclerae and recurrent fractures has been diagnosed with Osteogenesisimperfecta. Whatabnormalitypredisposestobonefragility?
A.Metalloproteinase B.Type1collagen C.Fibronectin D.Laminin E.Elastin
Answer:B)type1collagen. Osteogenesis imperfecta (OI) is a condition resulting from abnormality in the type I collagen,whichmostcommonlymanifestsasfragilityofbones.
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BasicScienceQ055
A65yearoldmanhasfamilialhypercholesterolaemia. Whichoneofthefollowingisacharacteristicfeatureofthecondition?
A.Palmarxanthomas B.Autosomalrecessiveinheritance C.ReducedexpressionofLDLreceptors D.Hypertriglyceridaemia E.Elevatedchylomicrons
Answer:c)ReducedexpressionofLDLreceptors. Thecharacteristicsoffamilialhypercholesterolaemiaare: autosomaldominantcondition increasedLDLconcentrations reducedHDLconcentrations reducednumbersofLDLreceptor cardiovasculardisease tendonxanthomatas

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BasicScienceQ056
A65yearoldmanhasarightsidedhomonymoushemianopiaandrightsidedupperand lower limb weakness. His reflexes are brisk on the right side. There is no sensory abnormalities. Whichofthefollowingareacouldbeinfarcted?
A.Lefttemporal B.Leftparietal C.Leftcingulategyrus D.Rightmedialthalamus E.Leftfrontallobe
Answer:b)leftparietal. The cingulate gyrus forms part of the limbic system, which is associated with mood and emotions.Frontallobelesionsarenotusuallyassociatedwithhomonymoushemianopia
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BasicScienceQ057
A50yearoldwomanhasrightsidedweakness,headacheandvomiting.Onexamination she has a hemiplegia affecting the right face, arm and leg. She also has unilateral internuclear ophthalmoplegiawith failure of adduction to the left andnystagmus to the left.Fundoscopyrevealspapilloedema. Inthispatient,thepapilloedemaisduetoobstructionat:
A.TheforamenofMonro B.TheforamenofMorgagni C.TheforamenofMagendie D.TheaqueductofSylvius E.TheforamenofLuschka
Answer:d)theaqueductofSylvius. The aqueduct of the midbrain (the aqueduct of Sylvius) runs in the tegmentum of the midbrain and joins the third and fourth ventricles. Compression of the aqueduct can resultinobstructivehydrocephalusandpapilloedema. Headache and vomiting can occur because of raised intracranial pressure. Malignant or benign intracranial tumors, colloidal cysts, arachnoid cysts, and neurocysticercosis can alsocausecompressionandneedtoberuledout.
CSFdrainage
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BasicScienceQ058
A 75 year old man has a posterior cerebral artery territory infarct. Which one of the followingislikeytooccur?
A.Bitemporalhemianopia B.Expressivedysphasia C.Receptivedysphasia D.Colourblindness E.Corticalblindness
Answer:e)corticalblindness. The posterior cerebral artery supplies the occipital lobe and the inferior portion of temporal lobe. Homonymous hemianopia, cortical blindness, verbal dyslexia and hemivisualneglectcanoccur.
PosteriorCerebralArtery
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BasicScienceQ059
A30yearoldladyhaspalpitationsandissubsequentlyconfirmedtohavethyrotoxicosis duetoGrave'sdisease. Whichofthefollowingstatementsistrue?

A.Grave'sdiseaseisassociatedwithmusculardystrophy B.Propylthiouracilispreferredovercarbimazoleinpregnancy C.RadioactiveiodinealwaysimprovesGrave'sdisease D.Smokinghistoryisirrelevant E.SteroideyedropsaretypicallyusedtotreatGrave'seyedisease
Answer:b)propylthiouracilispreferredovercarbimazoleinpregnancy. Grave'sdiseaseisassociatedwithotherautoimmuneconditionse.g.myastheniagravis. Propylthiouracil is preferred to Carbimazole in pregnancy because carbimazole crosses theplacentaandcancausenail/fingerabnormalities(aplasiacutis)inthebaby. Radioactive iodine can worsen Grave's disease. Smoking is a risk factor for Grave's disease. HighdoseoralorivsteroidsarerequiredinGrave'seyedisease.
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BasicScienceQ060
Whichoneofthefollowingconditionshasautosomaldominantinheritance?
A.Oculocutaneousalbinism B.Betathalassaemia C.Marfan'ssyndrome D.Wilson'sdisease E.XerodermaPigmentosa
Answer:c)Marfan'ssyndrome. Marfan's syndrome inheritance is autosomal dominant. The rest of the conditions are autosomalrecessive. Thelistofautosomalrecessiveconditionsare: oculocutaneousalbinism alkaptonuria Bartter'ssyndrome cysticfibrosis endemicgoitrouscretinism galactosaemia Gaucher'sdisease glycogenstoragedisease phenylketonuria Wilson'sdisease xerodermapigmentosa
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BasicScienceQ061
Activationofthecomplementcomponentsisassociatedwithpotentbiologicalfunctions tocounteractinfections. Whichofthefollowingactivatesratherthaninhibitsthecomplementpathway?

A.DAF B.CR1 C.C3b D.FactorI E.MCP
Answer:c)C3b. C3b is an active fragment of C3, and can activate the alternative pathw ay. DAF, CR1, FactorIandMCParecomplementpathwayinhibitors.
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BasicScienceQ062
The thymus gland contains 3 major cell populationsepithelial, hemopoietic, and accessorycells. Whichofthefollowingcellsdevelopinthethymus?
A.Macrophages B.Tcells C.Erythrocytes D.Bcells E.Hairycells
Answer:b)Tcells. B cells are not only produced in the bone marrow but also mature there. How ever, the precursorsofTcellsleavethebonemarrowandmatureinthethymus.
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BasicScienceQ063
A 55 year old male has been a heavy smoker and has had previous exposure to silica dust.HepresentstoA&Ewithworseninglongstandingbreathlessness. HisarterialpHis7.36.pCO2of7.7kPaandpO2of7.7kPa.HisHCO3is32(2028)mmol/l andBaseexcessis2. Whichistheaccuratedescriptionofhisacidbasebalance?
A.Metabolicacidosiswithrespiratorycompensation B.Metabolicalkalosiswithrespiratorycompensation C.Respiratoryacidosiswithmetaboliccompensation D.Respiratoryalkalosiswithmetaboliccompensation E.Normalaniongapmetabolicacidosis
Answer:c)respiratoryacidosiswithmetaboliccompensation. There is chronic type 2 respiratory failure causing respiratory acidosis because of the hypoxia and hypercapnia. This is compensated metabolically by HCO3 retention and pH isrestoredtowithinanormalrange.
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BasicScienceQ064
Whichisthestructureformedbytherootsofthelumbarandsacralnerves?
A.Falxcerebri B.Amygdala C.Cisterns D.Medullaoblongata E.Caudaequina
Answer:e)caudaequina. Thecordistaperedatthelowerendtoformtheconusmedullaris. Therootsofthelumbarandsacralnervesarelongandtheyformthecaudaequina.
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BasicScienceQ065
A40yearoldwomanhasMELAS. Whichofthefollowingiscorrectregardingtheriskofthegrandsonsandgranddaughters havingthedisease?

A.Sonschildren100%,Daughterschildren100% B.Sonschildren0%,Daughterschildren100% C.Sonschildren50%,Daughterschildren100% D.Sonsdaughters100%,Sonssons100% E.Daughtersdaughters100%,Daughterssons0%
Answer:B)Sonschildren0%,Daughterschildren100%. Kearn Sayre's, MELAS, MERRF, progressive external opthalmoplegia, Leber's optic atrophy are mitochondrially inherited diseases. The mitochondrial DNA is passed on onlyfromthemothertoallchildren.
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BasicScienceQ066
A 35 year old lady presents with w asting of the quadriceps and weakness of knee extension. There is loss of the knee jerk and sensory impairment over the front of the thighandoverthesubcutaneoussurfaceofthetibia. Thelikelylesionis:
A.Peronealnerve B.Brachialnerve C.Obturatornerve D.Femoralnerve E.Sacralnerve
Answer:d)Femoralnerve. The femoral nerve supplies the iliacus and pectineus, and the muscles on the anterior thigh. The nerve also provides cutaneous filaments to the front and inner side of the thighandtothelegandfoot(viasaphenousnerve).
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BasicScienceQ067
WhichoneofthefollowingfeaturesisfoundinNeurofibromatosisType1(NF1)?
A.Webbedneck B.Calcinosis C.Lensdislocation D.LischNodules E.Rothsspots
Answer:d)LischNodules. Lisch nodules (pigmented spots) of the iris are present in more than 90% of patients with neurofibromatosis type 1. Bilateral acoustic neuromas are a hallmark feature of neurofibromatosistype2. The diagnosis is suggested by six or more caf au lait spots. Although the condition is autosomaldominant,almosthalfofallcasesarenewmutations.
LischNodules
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BasicScienceQ068
A17yearoldladyhassmall,raisedlesionsonhertrunkandalsohasaxillaryfreckles. Whatisthelikelymodeofinheritanceofthiscondition?
A.Autosomaldominant B.Autosomalrecessive C.Trinucleotiderepeats D.Xlinkedrecessive E.Xlinkeddominant
Answer:a)Autosomaldominant. Theconditiondescribedisneurofibromatosis.Inheritanceisautosomaldominant. ThegenedefectforNF1isonchromosome17,andforNF2isonchromosome22.
Neurofibromas
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BasicScienceQ069
A 35 year old diabetic man has loss of sensation in the anterior and lateral part of the thigh. Whichnerveislikelytobeaffected?
A.Sciaticnerve B.Lateralcutaneousnerve C.Glutealnerve D.Pudendalnerve E.Femoralnerve
Answer:b)lateralcutaneousnerve. Traumaaroundtheinguinalligamentcanleadtodamageinthelateralcutaneousnerve supplying the anterolateral portion of the thigh. It is a purely sensory nerve which travelslateraltothepsoasmuscle.
LateralCutaenousNerve(markedNCL)
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BasicScienceQ070
Whichofthefollowingenzymesconvertsglucosetoglucose6phosphate?
A.Phosphofructokinase B.Glucokinase C.Hexokinase D.Fructokinase E.Glucose6phosphatase
Answer:c)Hexokinase. Hexokinase catalyses the conversion of glucose to glucose6phosphate, using a phosphategroupdonatedfromATP.

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BasicScienceQ071
Whichofthefollowingistrueregardingtheroleofrestrictionenzymes?
A.AnnealDNAtogether B.SynthesizeDNA C.Areinvolvedinthecellcyclearrest D.CutDNA E.DegradeDNA
Answer:d)CutDNA. Restriction enzymes cut DNA at nucleotide sequences specific to each restriction enzyme. HindIII and EcoRI are examples of restriction enzymes. DNA ligase and polymerase are involvedinjoiningandlinkingDNAtogether. EcoR1asanexampleofarestrictionenzyme
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BasicScienceQ072
Respiratory distress syndrome can be associated with reduction of lung surfactant. Surfactantisproducedinwhichcellinthelung?
A.Alveoliwhitecells B.Vesselendothelium C.TypeIIpneumocyte D.Smallcell E.Keratinocytes
Answer:c)typeIIpneumocyte. LungsurfactantisproducedbytypeIIpneumocytes.
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BasicScienceQ073
A 22 year old cricket player presents with an injury to his right upper limb. On examination of the right upper limb there is incomplete and defective pronation. The wristflexorsareparalysedwhenexaminedagainstresistance. When this is tested the tendon of flexor carpi ulnaris stands out and the hand becomes ulnar deviated. Flexion of the ulnar Two fingers is possible although it is w eaker than normal. Abduction and opposition of the thumb is defective. There is sensory loss over thelateralthreeandahalfdigitsofthehandandthelateralaspectofthepalm. Theinjuryislocatedat:
A.Ulnarnerveatthewrist B.Ulnarnerveattheelbow C.Brachialnerve D.Musculocutaneousnerve E.Mediannerveattheelbow
Answer:e)Mediannerveattheelbow. An injury to the median nerve at the elbow causes weakness of pronator teres, radial flexors of the wrist, the long finger flexors except the ulnar half of the deep flexors, mostofthemusclesofthethenareminenceandtheTworadiallumbricals. Sensory loss occurs over the lateral three and a half digits of the hand and the lateral aspectofthepalm.Theremayalsobevasomotorandtrophicchanges.
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BasicScienceQ074
Which of the following is true regarding autosomal recessive inheritance involving parentsandchildren?
A.Forparentswithoneaffectedchild,theriskofhavinganotheraffectedchildis1in2 B.Forparentswithoneaffectedchild,theriskofhavinganotheraffectedchildis1in8 C.Unaffectedsiblingsofanaffectedchildhavea1in3chanceofbeingcarriers D.Unaffectedsiblingsofanaffectedchildhavea2in3chanceofbeingcarriers E.Unaffectedsiblingsofanaffectedchildaredefinitecarriers
Answer:d)unaffectedsiblingsofanaffectedchildhavea2in3chanceofbeingcarriers. Thebestwaytounderstandistodrawafamilytreewiththeparentsbothbeingcarriers of the recessive gene [AAx and BBx] and four possible inherited combinations [ AB, AxB, AxBandAxBx]. Forparentswithoneaffectedchild,theriskofhavinganotheraffectedchildis1in4. Unaffected siblings have a 2 in 3 chance of being carriers because the last possibility of bothrecessivegenesiseliminated(AxBx).
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BasicScienceQ075
WhichONEofthefollowingorganelleshaveselfreplicatingDNA?
A.EndoplasmicReticulum B.Golgiapparatus C.Peroxisome D.Mitochondria E.Lysosomes
Answer:d)Mitochondria. Mitochondria have DNA, which can pass on inherited mitochondrial diseases (e.g. MELAS/MERRF).
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BasicScience
BasicScienceQ076
APlasmidbestdescribedas
A.ArecombinantsectionofDNA B.BacterialDNAseparatefromchromosome C.Multipleoriginsofreplication D.ViralRNA E.Consistofmultiplecopiesofasinglegene
Answer:b)bacterialDNAseparatefromchromosome. Plasmids are circular molecules of bacterial DNA separate from the bacterial chromosome.Theyareusuallysmall,consistingofafewthousandbasepairs.Theycarry oneofafewgenesandhaveasingleoriginofreplication.
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BasicScienceQ077
A30yearoldmanhasLipoproteinlipasedeficiency.Whichoneofthefollowingfeatures ismostlikely?
A.Markedhypercholesterolaemia B.Reducedchylomicrons C.Markedhypertriglyceridaemia D.FamilialHypercholesterolaemia E.Combinedhyperlipidaemia
Answer:c)Markedhypertriglyceridaemia. MutationsintheLPLgenecausefamiliallipoproteinlipasedeficiency. The breakdown of chylomicrons releases fat molecules for storage in fat (adipose) cells orforenergyuse. Inheritance is autosomal recessive. Thebreakdown of chylomicronsreleases triclyceride molecules for storage in adipose cells or for energy use. Mutations in the LPL gene prevent lipoprotein lipase from breaking down chylomicrons effectively, leading to high triglyceridelevelsintheplasma.
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BasicScienceQ078
WhichoneofthefollowingistrueregardingmitochondrialDNAdiseases?
A.MitochondrialDNAisinheritedfromthefather B.MitochondrialDNAiscomposedofacircularloopofdoublestrandedDNA C.Mitochondrialgenomeencodesfornuclearproteins D.MutationsofmitochondrialDNAoccursinmultiplesclerosisrelatedopticatrophy E.SimvastatindepletesmusclemitochondrialDNA
Answer:b)MitochondrialDNAiscomposedofacircularloopofdoublestrandedDNA. Mitochondrial DNA is inherited from the mother. Mitochondrial DNA codes for proteins in the oxidative phosphorylation / electron transport chain. Leber's optic atrophy is a form of mitochondrial disease. AZT (zidovudine) is an example of a drug which does depletemusclemitochondrialDNA.
MitochondrialDNA
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BasicScience
BasicScienceQ079
Whichofthefollowingisdegradedtouricacid?
A.Uracil B.Thymine C.Cytosine D.Guanine E.Oroticacid
Answer:d)Guanine. The purine bases adenine and guanine are degraded to uric acid. Adenosine and Xanthine are also metabolised to uric acid. Uracil, thymine, cytosine and orotic acid are pyrimidinebases.
PurineMetabolism
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BasicScience
BasicScienceQ080
Whichoneofthefollowingfeaturesdoestrinucleotiderepeatdisordersexhibit?
A.Anticipation B.Linkage C.Methylation D.Reduction E.Genomicimprinting
Answer:A)anticipation. Trinucleotide repeat disorderstypically worsenifthere areexpansion in the numbersof repeats. This is labeled anticipation. The repeats may be involved in coding sequences ofproteinse.g.inHuntingtons.FragileXsyndromecausescognitiveimpairment.
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BasicScienceQ081
A 35 year old patient has a high arched palate and aortic regurgitation. He has a tall stature,andupwardslensdislocation. Whichgeneabnormalitydoeshehave?
A.Myosin B.Actin C.Fibrillin D.Spectrin E.Ankyrin
Answer:c)fibrillin. In Marfan's syndrome, a mutation in a gene causes a defect in the body's production of fibrillin,animportantbuildingblockofconnectivetissue.Inmanyfamilieswithinherited Marfan'ssyndrome,themutationaffectstheFBN1geneonchromosome15.
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BasicScienceQ082
A 30 year old woman has recently delivered a baby. She complains of groin pains. On examination, she has weakness of adduction and internal rotation of the hip. There is sensoryimpairmentoverthemedialaspectofthethigh. Whichnerveisaffected?
A.Femoralnerve B.Sciaticnerve C.Sacralnerve D.Obturatornerve E.Lateralcutaneousnerveofthethigh
Answer:d)Obturatornerve. Theobturatornervesuppliesgracilis,theadductor(longus,brevis,magnus)andtheskin overthemedialaspectofthethigh.
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BasicScienceQ083
Astudyrevealsanimmediateriseinbloodpressurefollowinginfusionofahormoneina groupofvolunteers. Whichofthefollowinghormonesislikelytohavebeenused?
A.AngiotensinI B.AngiotensinII C.Growthhormone D.Atrialnatriureticpeptide E.Brainnatriureticpeptide
Answer:b)angiotensinII. ThefinalactivemessengerofthereninangiotensinpathwayisangiotensinII. AngiotensinIIbindstoAT1receptorstocausevasoconstrictionandfluidretention,both of which lead to an increase in blood pressure. Angiotensin II receptor blockers lower bloodpressurebyblockingtheAT1receptors.
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BasicScienceQ084
A36yearoldmanhasgynaecomastiasecondarytocirrhoticliverdisease. Whatislikelytohavecausedthegynaecomastia?
A.Reducedtestosteroneproduction B.Increasedtestoteronemetabolism C.Increasedoestrogenproduction D.Reducedoestrogenmetabolism E.IncreasedLHlevels
Answer:D)reducedoestrogenmetabolism. Gynaecomastiainliverdiseaseisduetoanimbalanceinandrogenandoestrogenlevels, themaincontributorbeingreducedoestrogenmetabolism.

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BasicScienceQ085
A 30 year old male presents has intermittent jaundice and anaemia. He is diagnosed with glucose 6 phosphate dehydrogenase (G6PD) deficiency. His wife has normal G6PD activity. Whatisthelikelihoodoftheirchildrendevelopingtheconditionphenotypically?
A.Alltheirchildrenwillbeaffected B.Alltheirsonswillbeaffected C.Alltheirdaughterswillbeaffected D.50%oftheirdaughterswillbeaffected E.Noneoftheirchildrenwillbeaffected
Answer:e)Noneoftheirchildrenwillbeaffected. Glucose 6 phosphate dehydrogenase (G6PD) deficiency has X linked inheritance. The affected patient has a chromosome XxY and wife is XX. Therefore all daughers will be carriersXxXandall sonsnormal XY.None of these patientswillhavephenotypical G6PD deficiency.
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BasicScienceQ086
A40yearoldmanhasG6PDdeficiency. Whichoneofthefollowingsubstancesislikelytoleadtoredcellhaemolysis?
A.Chloroquine B.Paracetamol C.Trimethoprim D.Erythromycin E.Bakedbeans
Answer:a)chloroquine. Oxidative stress can be caused by drugs such as chloroquine, quinine, primaquine and sulphonamide (sulfomethoxazole), nitrofurantoin, NSAIDs, dapsone and aspirin. Fava beanscanalsocausehaemolysis.
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BasicScienceQ087
Whichoneofthefollowingcellssecretesintrinsicfactor?
A.Pancreaticisletcells B.Panethcells C.Gastricparietalcells D.Hepatocytes E.Myocytes
Answer:C)gastricparietalcells. Intrinsicfactorissecretedbythegastricparietalcells.Itisa glycoproteinwhichbindsto vitamin B12 best in an acid environment. It then releases vitamin B12 in the terminal ileumwhereproteasesdigestthebindingproteinsandvitaminB12isabsorbed
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BasicScienceQ088
A33yearoldmanhasmyotonicdystrophy. Whichoneofthefollowingfeaturesisthediseaselikelytoexhibit?
A.Decreasingincidencewithgenerations B.Skipsgenerations C.Anticipation D.Apoptosis E.Mutation
Answer:c)Anticipation. Anticipation refers to increasing severity with subsequent generations. It is common in trinucleotide repeat disorders like Huntington's disease, myotonic dystrophy and fragile Xsyndrome,wheretripletrepeatmutationsinDNAareimplicated. The mechanism behind the expansion of the triplet repeats is little understood. One theory is that the increasing number of repeats influence the overall shape of the DNA, which can have an effect on its interaction with DNA polymerase and thus the expressionofthegene.
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BasicScienceQ089
A 46 year old woman complains of numbness in her left hand. On examination, there was loss of sensation over the thumb and first 2 fingers with paralysis of abductor pollicisandopponenspollicis. Whichnerveisinjured?
A.Median B.Ulnar C.Radial D.Posteriorinterosseous E.Anteriorinterosseous
Answer:A)median Themediannervesuppliesthefollowingsmallmusclesinthehands: Abductorpollicisbrevis Opponenspollicis Flexorpollicisbrevis 1st&2ndlumbricals Thesensorysupplyistopalmarsurfaceofthumb,2nd,3rd&lateral1/2of4thfinger

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BasicScienceQ090
Whichofthefollowingisatumoursuppressorgene?
A.Ras B.Cmyc C.Nmyc D.P53 E.Src
Answer:d)p53. Mutated protooncogenes that cause cancer are called oncogenes. All of the above are oncogenes except for p53. Ras oncogene is involved in sporadic tumours (colon and lung) and rhabdomyosarcomas. cmyc translocation occurs in Burkitt's lymphoma. N myc protooncogene is seen in neuroblastoma. SRC oncogene is associated with sarcoma.p53isatumoursuppressorgene.
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BasicScienceQ091
A 18 year old man presents to casualty complaining of difficulty breathing. He had collapsed shortly after being stung on the leg by a wasp. On examination, his pressure was80/40mmHg,andtherewassignificantfacialswelling. Whichoneofthefollowinginvestigationsislikelytoconfirmthenatureofreaction?
A.Wasptoxinlevels B.SerumcomplementC3level C.SerumcomplementC4level D.SerumtotalIgElevel E.Plasmatryptaseactivity
Answer:d)SerumtotalIgElevel. This is a form of Type I hypersensitivity, also known as immediate anaphylactic hypersensitivity. It usually takes 15 to 30 minutes from the time of exposure to the antigen. The reaction involves production of IgE, in response certain antigens, which in turninitiatesasequenceofevents.
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BasicScienceQ092
Whichoneofthefollowingconditionsexhibitgenomicimprinting?
A.Abetalipoproteinaemia B.Patau'ssyndrome C.PraderWillisyndrome D.Down'ssyndrome E.MotorNeurondisease
Answer:c)PraderWillisyndrome. Genomicimprintingisexhibitedbythefollowingconditions: PraderWillisyndrome Angelmansyndrome BeckwithWiedemannsyndrome
GenomicimprintingDiseaseseveritydependsonwhetheritispaternallyormaternally inherited.
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BasicScience
BasicScienceQ093
WhichofthesereceptorshelpsasareceptortoallowHIVtoenteractivatedTcells?
A.CD4 B.CD8 C.CXCR4 D.CCR4 E.CCR3
Answer:c)CXCR4. CCR5 and CXCR4 are coreceptors which help HIV binding (gp120 to CD4 receptor) to activatedTcells.
CD4 molecules are known to play a central role, but CXCR4 (fusin) and CCR5 are also involved, possibly by removing gp120 from the HIV particle, thus exposing gp41, which isnecessaryforthemembraneattachmentofHIV.
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BasicScience
BasicScienceQ094
A 40 year old man with pleurisy for five days was assessed. A moderately sized pneumothoraxwasseeninachestradiograph. His arterial blood gases on air showed pH 7.44,PaCO2 3.0 kPa, PaO2 30.5kPa, standard bicarbonate16mmol/l. Howcantheclinicalpicturebeexplained?
A.Respiratoryacidosis B.Compensatedmetabolicalkalosis C.Compensatedmetabolicacidosis D.Compensatedrespiratoryalkalosis E.Compensatedrespiratoryacidosis
Answer:d)compensatedrespiratoryalkalosis. ThispatienthadanormalpHbuthadbothalowPaCO2andalowstandardbicarbonate. The history indicates five days of hyperventilation, so this is likely to be a compensated respiratoryalkalosis.
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BasicScience
BasicScienceQ095
An 18 year old male with meningococcal meningitis has further investigations. It was foundthathehadlowproperdinlevelsmeasuredbytheELISAtest. Howisthislikelytohavebeeninherited?
A.Autosomaldominant B.Autosomalrecessive C.Xlinkedrecessive D.Xlinkeddominant E.Mitochondrialinheritance
Answer:C)Xlinkedrecessive. The pathw ays include the classic pathw ay (C1qrs, C2,C4) and the alternative pathw ay (C3, factor B, properdin). Properdin is a protein encoded on the X chromosome. Properdin stabilizes the C3 convertase (C3bBb) of the alternative pathw ay, involved in opsonisation. Meningococcal disease is a prominent manifestation in a significant fractionofreportedcasesinallclinicalpatternsofcomplementdeficiency,particularly those where opsonisation is defective. Properdin deficiency states are Xlinked recessive, while other genetic defects within the complement system appear to be transmittedasautosomalrecessivetraits.
ComplementPathways
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BasicScience
BasicScienceQ096
Northernblottingisaprocesswhichinvolvesdetectionofwhichofthefollowing?
A.Immunoglobulins B.Proteins C.Viruses D.RNA E.DNA
Answer:d)RNA. NorthernblottingdetectsRNA,whilstSouthernblottingdetectsDNA.
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BasicScience
BasicScienceQ097
Amedicalstudentreviewsthephysiologyoftheoxygendissociationcurve. WhichoneofthefollowingisassociatedwithincreasedaffinityofHbforoxygen?
A.Chronichypoxia B.Anaemia C.Increased2,3DPG D.Coldtemperature E.Diabeticketoacidosis
Answer:d)coldtemperature. Acidosis, raised 2,3 DPG, raised temperature, hypoxia and anaemia all shift the O2Hb dissociationcurvetotheright,leadingtoreducedaffinitytoO2.
OxygenDissociationCurve
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BasicScience
BasicScienceQ098
ApatientwithCrohnsdiseaseandanileostomyhasthefollowingresults: Na134(135145mmol/l) K3.1(3.55mmol/l) Cl112(92107mmol/l) Bicarbonate12(2030mmol/l) Urea13(3.28.1mmol/l) Creatinine120(70110mmol/l) pH7.25(7.357.45kPa) PaCo23.1(3.55kPa) Thediagnosisislikelytobe:
A.Normalaniongapmetabolicacidosis B.Metabolicalkalosis C.Respiratoryalkalosis D.Respiratoryacidosis E.Hypochloraemicmetabolicacidosis
Answer:a)Normalaniongapmetabolicacidosis. Aniongap=(Na+K)(Cl+HCO3),[normalrange1018mmol/L].Inthiscase(134+3.2) (112+12)=13.1. Low bicarbonate in the presence of acidosis suggests a metabolic cause, the probable causeinthiscaseisgastrointestinalbicarbonateloss.
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BasicScience
BasicScienceQ099
A 40 year old patient has had EMGs done to investigate a cause of peripheral leg weakness. Whichofthefollowingfeaturessuggestsaxonalneuropathy?
A.Latency B.Reducedconductionvelocity C.Reducedmuscleactionpotentialamplitude D.Decreasedfrequencyofconductionsignals E.Conductionblock
Answer:c)reducedmuscleactionpotentialamplitude. Reduced amplitude of action potential is seen in axonal neuropathy. Reduced conductionvelocityorconductionblockisseenindemyelination.
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BasicScience
BasicScienceQ100
WhichofthefollowingarefoundinbotheukaryoticANDprokaryoticcells?
A.LinearDNA B.Ribosomes C.Chromosomes D.Nuclearmembrane E.Introns
Answer:b)Ribosomes. Eukaryotes (higher organisms) have muliple chromosomes in a genome which is separated from the rest of the cell by a nuclear membranes. Prokaryotes lack a membrane bound nucleus, their DNA occurs in a circular form. Transcription of eukaryotic genes requires noncoding sequences (introns) in the mRNA which is spliced out before translation at the ribosome. Both eukaryotes and prokaryotes have ribosomes.
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BasicScience
BasicScienceQ101
Whichofthefollowingischaracteristicallyinheritedinanautosomalrecessivemanner?
A.Adultpolycystickidneydisease B.C1esteraseinhibitordeficiency C.Sicklecelldisease D.Achondroplasia E.Familialhypercholesterolaemia
Answer:c)Sicklecelldisease. Sickle cell disease is inherited in an autosomal recessive manner (sickle cell trait is inheritedinanautosomaldominantmanner). Achondroplasia, adult polycystic kidney disease, C1 esterase inhibitor deficiency (hereditaryangiooedema)andfamilialhypercholesterolaemiaareusuallyinheritedinan autosomaldominantmanner.
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BasicScience
BasicScienceQ102
Whichoneofthefollowingstatementsdescribesgenomicimprinting?
A.Expansionofrepeatswithtime B.Genotypicvariabilityfrommaternalandpaternalchromosomes C.Phenotypicpresentationdependsoneithermaternalorpaternalchromosome D.Imprintingofmutationsongenomes E.Mendelianinheritance
Answer: c) phenotypic presentation depends on either maternal or paternal chromosome. Genomic imprinting refers to the difference in phenotypic presentation depending on theoriginofthediseasechromosomefromeithermaternalorpaternal.
Genomic imprinting The imprinting "mark" is represented by a stippled box, and the imprintedstateisindicatedwithanX.
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BasicScience
BasicScienceQ103
Phosphorylationofproteintyrosineresiduesisassociatedwithwhichofthefollowing?
A.Proteinsynthesis B.DNAreplication C.Proteosomaldegradation D.Cellsignalingpathways E.Proteindegradation
Answer:D)cellsignalingpathways. Protein tyrosine kinases (PTKs) are enzymes which catalyze the phosphorylation of tyrosine residues. These enzymes are involved in cellular signalling pathw ays and regulatekeycellfunctionssuchasproliferation,differentiation,antiapoptoticsignalling and neurite outgrow th. Unregulated activation of these enzymes, through mechanisms such as point mutations or overexpression, can lead to various forms of cancer as well as benign proliferative conditions. Indeed, more than 70% of the known oncogenes and protooncogenesinvolvedincancercodeforPTKs.
TyrosineKinaseReceptor
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BasicScience
BasicScienceQ104
A man with mild bleeding disorder is being considered for aspirin for acute coronary syndrome. Whichoneoftheeffectsofaspirinisbeneficialincoronaryarterydisease?
A.ReductioninthromboxaneA2synthesis B.Increaseintheprostaglandins C.GlycoproteinIIBIIIAreceptorinhibition D.ADPreceptorantagonism E.IncreaseinCOXenzymes
Answer:a)reductioninthromboxaneA2synthesis. AspirinblocksthesynthesisofCOX1andCOX2enzymes. This leads to a reduction in the prostaglandin PGG2, PGH2 thromboxane TXA2 synthesis.Thisleadstoplateletaggregation.
Aspirinaction(salicylates)
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BasicScience
BasicScienceQ105
A 12 year old child is investigated for multiple skin abscesses. Swabs grow staphylococcusaureus.Hiscousinhaddiedfromaserioussepticillnessafewyearsago. Whatformofimmunedeficiencyisthechildlikelytohave?
A.Eosinophil B.Neutrophil C.Complement D.Lymphocyte E.ImmunoglobulinA
Answer:B)neutrophil. Primary neutrophil deficiencies are rare and are due to an abnormality, usually inherited, of the neutrophil itself. The problem can affect phagocytosis (e.g. deficiency of an adhesionmolecule, CD18/LFAdeficiency, on the neutrophil surface).Patientswith neutrophil defects suffer from recurrent chest infections with bacteria or fungi, recurrent skin abscesses often caused by Staphylococcus aureus and poor wound healing.
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BasicScience
BasicScienceQ106
A 40 year old man attends a fertility clinic. Examination shows that he is tall, thin and hasbilateralgynaecomastia. Investigationshowhighlevelsofurinarygonadotrophins. Whatisthelikelydiagnosis?
A.Homocystinuria B.Marfansyndrome C.Testicularfeminisationsyndrome D.Noonan'ssyndrome E.Klinefelter'ssyndrome
Answer:e)Klinefelter'ssyndrome. Klinefelter's syndrome is the most common chromosomal disorder associated with male hypogonadism and infertility. It is defined classically by a 47, XXY karyotype with variantsdemonstratingadditionalXandYchromosomes. The syndrome is characterized by hypogonadism (small testes, azoospermia/oligospermia), gynecomastia at late puberty, psychosocial problems, hyalinization and fibrosis of the seminiferous tubules, and elevated urinary gonadotropins.
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BasicScience
BasicScienceQ107
Whichoneofthefollowingaminoacidsisthyroxinederivedfrom?
A.Leucine B.Glycine C.Cystathione D.Tryptophan E.Tyrosine
Answer:e)Tyrosine. Each molecule of thyroxine is derived from Two tyrosine molecules and three (T3) or four(T4)iodinemolecules.
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BasicScience
BasicScienceQ108
A30yearmanhasacuteonsetofpainaroundhislefteye.Onexamination,hehasaleft ptosisandasmallleftpupilbutbothreactnormallytolight.Visualacuity,fieldsandeye movementsarenormal.Thesiteofinjuryistowhichofthefollowing?
A.Midbrain B.Superiorcervicalganglion C.Stellateganglion D.Pons E.Geniculateganglion
Answer:b)superiorcervicalganglion. The diagnosis is Horner's syndrome. The sympathetic nerve fibres from the hypothalamus travel through brainstem and cervical cord to T1/T2. These synapse on preganglionic sympathetic fibres, travel up sympathetic chain to superior cervical ganglion, and then synapse onto postganglionic fibres which travel with common and internalcarotidarteries.
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BasicScience
BasicScienceQ109
Two strains of Staph aureus are isolated and both are resistant to ampicillin. Strain 1 retains its resistance to amplicillin when grown from multiple generations in the absence ofampicillin. However strain 2 loses itsresistancewhengrown in theabsence ofampicillin. Whichofthefollowingbestexplainsthelossofantibioticresistanceinstrain2?
A.Ampicillinhaseliminatedresistantbacteria B.Variabilitywithgenerations C.Transpositionofanothersequenceintotheresistancegene D.ChangesinbacterialDNAligase E.Lossofaplasmidcontainingtheresistancegene
Answer:e)Lossofaplasmidcontainingtheresistancegene. Bacteria develop resistance to antibiotics by gaining genes which encode particular proteins which offer protection organism. Sometimes this occurs by mutation but at other times gene may be acquired from another bacterial species. The genes are contained in plasmids (circular segments of DNA) separate from bacterial chromosome. Plasmids can easily spread from one bacteria or equally lost. Transfer, loss and gain of plasmidsarerelativelycommoncomparedtosinglemutations.
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BasicScience
BasicScienceQ110
Apatienthasthefollowingbloodresults. sodium131mmol/l potassium4.5mmol/l urea5mmol/l creatinine100mol/l glucose12mmol/l Whatisherplasmaosmolality?
A.262 B.267 C.279 D.280 E.290
Answer:C)279. Plasmaosmolalityisestimatedbythefollowingformula2xNa+Urea+glucose.262+5 +12=279(mmol/kg).Anexample:highserumosmolalitycouldbecausedbyHONK.

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BasicScience
BasicScienceQ111
Thelevelofcellulartelomeraseactivitywillaffectwhichofthefollowing?
A.Celldeath B.Thenumberofpotentialcelldivisions C.RNAsynthesis D.Therateofcellgrowth E.Cellsurvival
Answer:b)Thenumberofpotentialcelldivisions. The telomere is a DNA sequence at end of each chromosome which becomes progressively shorter with each division the cell undergoes. The enzyme telomerase is ablethelengthentelomerethuspreventingthelimitationtowardscelldivision.
TelomeraseActivity
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BasicScience
BasicScienceQ112
Whichoftheseareasisinvolvedinthepupillaryreflex?
A.Occipitalcortex B.Stellateganglion C.Trochlearganglion D.Vestibularnucleus E.Ciliaryganglion
Answer:e)ciliaryganglion. Thepathwayofthepupillarylightreflexconsistsof:retinalreceptorcells,bipolarcells, ganglion cells, optic nerve and tract, lateral geniculate bodies, superior colliculus and pretectal nucleus of the high midbrain, EdingerWestphal nucleus, efferent Two neurone pathw ay via the oculomotor nerve (IIIrd nerve), ciliary ganglion, constrictor muscleoftheiris.
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BasicScience
BasicScienceQ113
Whichoneofthefollowingisthebestindicatorofosteoblasticactivity?
A.Aspartateaminotransferase B.Calcium C.Albumin D.Alkalinephosphatase E.Leucocytes
Answer:D)alkalinephosphatase. Bone alkaline phosphatase (BALP) is produced by the osteoblast It is an index of early osteoblastdifferentiationandactivity.
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BasicScience
BasicScienceQ114
Which one of the following organs is in direct contact anterior surface of left kidney, withoutbeingseparatedfromitbyperitoneum?
A.Spleen B.Descendingcolon C.Stomach D.Pancreas E.Liver
Answer:d)Pancreas. Primarily retroperitoneal organs are those that develop and remain behind (outside) theperitoneum(kidneys,aorta,pancreas). Secondarily retroperitoneal organs are those that develop within the peritoneal sac but arepushedbehinditduringgrowth(e.g.ascendingcolon,mostofduodenum).
NormalstructuresoftheRetroperitoneum
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BasicScience
BasicScienceQ115
A45yearoldwomanhasG6PDdeficiency. Whichoneofthefollowingistrueregardingthechildren?
A.Halfthedaughterswillbeaffected B.Allthedaughterswillbeaffected C.Halfthedaughterswillbecarriers D.Allthesonsareaffected E.Halfofthesonsareaffected
Answer:D)allthesonsareaffected. G6PD deficiency is X linked recessive. Assuming the husband is not a gene carrier her genotypeisXXXX and her husbandis XY.Bothdaughterswillhave thegenotype XXXand willbecarriers.BothsonswillhavethegenotypeXXYandareaffected.
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BasicScience
BasicScienceQ116
A 53 year old lady with previous peptic ulcer disease was admitted with persistent vomiting.Shelookeddehydrated. Her blood results were sodium 140 mmol/l, potassium 2.5 mmol/l, chloride 86 mmol/l, pH7.5,Paco26.0kPa,Pao214kPa,standardbicarbonate40mmol/l. Whatistheacidbasedisturbance?
A.Hyperchloraemicmetabolicalkalosis B.Hypochloraemicmetabolicalkalosis C.RespiratoryacidosisduetotypeIIrespiratoryfailure D.RespiratoryacidosisduetotypeIrespiratoryfailure E.Highaniongapmetabolicacidosis
Answer:b)hypochloraemicmetabolicalkalosis. This patient had alkalosis due to a high standard bicarbonatemetabolic alkalosis. The PaCO2 was appropriately low in compensation. This was a hypokalaemic hypochloraemic state because of potassium and chloride loss from vomiting. Treatment was of the underlying cause (pyloric stenosis) and intravenous sodium chloride with potassium.
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BasicScience
BasicScienceQ117
Glycolysisconvertsglucoseintowhichofthefollowing?
A.Glycerol B.AcetylcoA C.Fructose D.Pyruvate E.Citrate
Answer:d)Pyruvate. Glucose, a sixcarbon sugar, is converted to Two molecules of a threecarbon unit, pyruvateinglycolysis.
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BasicScience
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BasicScience
BasicScienceQ118
InwhichofthefollowingconditionswouldDNAanalysisbeuseful?
A.Turner'ssyndrome B.Down'ssyndrome C.FragileXsyndrome D.CreutzfeldJakobsyndrome E.Klinefelter'ssyndrome
Answer:c)FragileXsyndrome. Chromosomal analysis is useful for Turner's (XO), Down's (trisomy 21) and Klinefelter's (XXY). In Fragile X DNA analysis is useful to determine trinucleotide repeats (CGG repeats)
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BasicScience
BasicScienceQ119
Whichofthefollowingdescribeacodoncorrectly?
A.A3basepairunitofDNAthatcodesforanaminoacid B.A3basepairunitofRNAthatcodesforanaminoacid C.A2basepairunitofDNAthatcodesfora4basepairunitofRNA D.A5basepairunitofRNAthatcodesforanaminoacid E.A1basepairunitofDNAthatcodesforanaminoacid
Answer:b)a3basepairunitofRNAthatcodesforanaminoacid. During translationofmRNA,the bases are read in a 3 base pair ortripletcode, each 3 basepairunitbeingreferredtoasacodon.
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BasicScience
BasicScienceQ120
An 18 year old woman has an inherited vitamin D metabolic disorder. She has Two brotherswhoareunaffected. Shehasthreesisterswhoareallaffected.Herfatherisaffectedbutnothermother. Whatisthemodeofinheritance?
A.AutosomalDominant B.AutosomalRecessive C.Mitochondrialinheritance D.XlinkedRecessive E.XlinkedDominant
Answer:e)XlinkedDominant. X linked dominant disorders are rare (e.g. Vitamin D resistant rickets). The condition affects both sexes but females more than males. All children of a homozygous mother are affected (XxXx). Half of the sons and half of the daughters inherit the disorder from anaffectedmotherwiththetrait(XxX).Anaffectedfather(XxY)passesthediseasetoall hisdaughters(XxX)butnoneofhissons(XY).
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BasicScience
BasicScienceQ121
An 18 year old girl took an overdose of 20 g of paracetamol with 3 pints of beer. Upon presentation to hospital 6 hours later, she was commenced on intravenous N acetylcystine immediately. 1 hour later she developed tachycardia, flushing and w heezing. Whatislikelytohavecausedthis?
A.IgEhypersensitivityreaction B.Disulfiramtypereaction C.Interactionwithalcohol D.Interactionwithparacetamol E.Lateeffectsofparacetamoloverdose
Answer:A)IgEhypersensitivityreaction. AsystemicanaphylactoidreactioncanoccurwithivNacetylcysteine. Features of this are bronchospasm, hypotension, tachycardia, flushing,angioedema and rash.
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BasicScience
BasicScienceQ122
A patient has multiple skin lesions that consist of sessile and pedunculated papules and nodules over the entire surface of his body. In addition, there are multiple pigmented maculesonhistrunkandaxillaryfreckling.ThereareLischnodulesontheiris. Theinheritanceofthisconditionis:
A.Polygenicinheritance B.Autosomalrecessive C.Autosomaldominant D.Xlinkeddominant E.Xlinkedrecessive
Answer:c)Autosomaldominant. Thediagnosisisneurofibromatosis,whichhasautosomaldominantinheritance.
Skinneurofibromas
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BasicScience
BasicScienceQ123
A 55 year old woman has visual problems. On examination, she has a right sided third nervepalsy. Whichoneofthefollowingoccurstypicallyinathirdnervepalsy?
A.Smallpupil B.Reactivepupil C.Exopthalmos D.Ptosis E.Eyelooksupward
Answer:d)ptosis. 3rd nerve palsy leads to ptosis, dilated unreactive pupil and eye looking down and out (due to unopposed superior oblique and abducent nerves. Exopthalmos can be associated(e.g.gravesdisease)butisnotafeatureof3rdnervepalsy.
ThirdNervePalsyontheRight
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BasicScience
BasicScienceQ124
An 23 year old male has a chronic cough and recurrent bronchopulmonary infections. On examination he is clubbed and there are coarse late inspiratory crepitations (crackles) at both lung bases. His sw eat sodium concentration is 80 mmol/L (normal 60 mmol/L). Themodeofinheritanceoftheconditionis:
A.Xlinkeddominant B.Autosomalrecessive C.Autosomaldominant D.Xlinkedrecessive E.Multifactorial
Answer:b)autosomalrecessive. Cysticfibrosisiscausedbyagenemutation(CFTRgene)onthelongarmofchromosome 7.Itisautosomalrecessive.

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BasicScience
BasicScienceQ125
A 35 year old man had an injury w hilst doing DIY w ork. He has numbness around the halfofhisfourthfingerandlastdigit. Whichofthesemotorfunctionsislikelytobeimpaired?
A.Flexionofthefourthfinger B.Extensionofthefourthfinger C.Extensionofthelittlefinger D.Thumbabduction E.Thumbadduction
Answer:e)thumbadduction. The distribution of sensory loss implies an ulnar nerve lesion. Flexion of the fingers and thumb abduction is supplied by the median nerve. Extension of the fingers are supplied byradialnerve.
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BasicScience
BasicScienceQ126
A 25 year old male presents with w asting and weakness of the muscles of the pelvic girdle.Thereisevidenceofgeneralisedmuscularhypertrophy.Hismaternalgrandfather hadasimilardisorder. Themodeofinheritanceis:
A.Mitochondrialinheritance B.Xlinkeddominant C.Autosomaldominant D.Autosomalrecessive E.Xlinkedrecessive
Answer:e)Xlinkedrecessive. ThediagnosisisBecker'smusculardystrophy.ThisisXlinkedrecessive.
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BasicScience
BasicScienceQ127
Which one of the following describes formation of proteins along the mRNA in a 5 to 3 direction?
A.Reversetranscription B.Transcription C.Translation D.Duplication E.Splicing
Answer:c)translation. Translation alw ays begins with a methionine residue. The mRNA is translated in the 5 to3 directionandis read ingroups of 3bases,whichare known as codons. Newamino acidsareaddedtothecarboxylterminusofthegrowingpeptidechain.
TranslationandProteinsynthesis
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BasicScience
BasicScienceQ128
A 35 year old woman presents with a right sided Horner's syndrome with anhydrosis of themedialsideoftherightforehead. ThecauseoftheHorner'sismostlikelydueto:
A.Cervicalrib B.Lateralmedullainfarct C.Injuryaroundinternalcarotidartery D.Compressionfrompancoasttumour E.Hypothalamusinsult
Answer:c)injuryaroundinternalcarotidartery. AllarepotentialcausesofHorner'ssyndrome.However,thesympatheticplexusaround theinternalcarotidarterysuppliesthemedialsideoftheforehead,henceanhydrosisto thatregionspecificallypointstowardsinjurytotheinternalcarotidarteryatthatsite.
RightsidedHorner's(ptosis,miosis,anhydrosis)
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BasicScience
BasicScienceQ129
Whichofthefollowingistheproductofthebetaoxidationoffattyacids?
A.Glucose6phosphate B.Pyruvate C.Oxaloacetate D.HydroxymethylglutarylCoenzymeA E.AcetylCoenzymeA
Answer:e)AcetylCoenzymeA. Betaoxidationistheprocessbywhichfattyacidsarebrokendowntosmallerunitssuch thatsubstancessuchasAcetylCoenzymeAcanenterthecitricacidcycle.
FattyAcidOxidation
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BasicScience
BasicScienceQ130
Which of the following is the end product of glycolysis which feeds into the citric acid cycle?
A.Glucose B.Fructose C.Citrate D.Pyruvate E.AcetylcoA
Answer:d)pyruvate. Acetyl CoA is a tw ocarbon unit which is formed from pyruvate. Pyruvate is the end productofglycolysis.Thisreactioniscatalysedbypyruvatedehydrogenase.AcetylcoAis the substrate for the citric acid cycle. With each turn of the cycle, Two carbon atoms enterasacetylCoAandTwocarbonatomsarelostasCO2.
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BasicScience
BasicScienceQ131
A 60 year old man with type 1 diabetes and diabetic nephropathy was recovering on a surgical w ard after a total colectomy and ileostomy. He had persistent metabolic acidosis and the surgeons concerned about his high potassium concentration and that theremayhavebeensomeischaemiaintheabdomencausingtheacidosis. How ever, the patient appeared well perfused and had normal vital signs. He had normalfluidbalanceandhisresultsshowed: sodium130mmol/l potassium8.5mmol/l creatinine200mol/l(2.16mg/dl) chloride109mol/l 8amcortisol500nmol/l(18g/dl) pH7.29 PaCO23.5kPa PaO214kPa standardbicarbonate12mmol/l Whatisthemetabolicdisturbance?
A.Hyporeninaemichyperaldosteronism B.Hyporeninaemichypoaldosteronism C.Hyperreninaemichyperaldosteronism D.Hypokalaemichyperaldosteronism E.Hypochloraemichypoaldosteronism
Answer:b)hyporeninaemichypoaldosteronism. This man had diabetic nephropathy which predisposes to renal tubular acidosis. Type 4 (hyporeninaemic hypoaldosteronism) RTA is typically associated with high potassium and is found in diabetic and hypertensive renal disease. This patient also had acidosis due to low bicarbonate. The PaCO2 was appropriately low in compensation. The anion gap was normal (13.5 mmol/l). This makes intraabdominal ischaemia (which causes lacticacidosis)unlikely.
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BasicScience
BasicScienceQ132
Geneticanticipationoccurscharacteristicallyinwhichoneofthefollowingconditions?
A.Wilson'sdisease B.Spinocerebellarataxiatype1 C.Haemochromatosis D.Neurofibromatosis E.TuberousSclerosis
Answer:b)Spinocerebellarataxiatype1. Anticipation refers to the increased severity of disease at earlier age of onset with successivegenerations. Itisafeatureoftrinucleotiderepeatdisorders,whichare: spinocerebellarataxia fragileX myotonicdystrophy Huntington'sdisease
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BasicScience
BasicScienceQ133
A 20 year old man with a tall stature has a cardiac murmur characterized by a midsystolic click. An echocardiogram reveals mitral valve insufficiency with upw ard displacementofoneleaflet.Thereisalsoaorticrootdilatationof4cm. Amutationinvolvingwhichofthefollowinggenesislikelytobepresentinthispatient?
A.Fibrillin B.Ankyrin C.Spectrin D.VEGF E.CFTR
Answer:a)Fibrillin. Marfan's syndrome is described. This is a connective tissue disorder with the fibrillin gene abnormality, leading to associated floppy mitral valve and also cystic medial necrosiswhichpredisposesaorticdissection.
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BasicScience
BasicScienceQ134
A 45 year old woman presents with weakness of her left upper limb, which developed overnight.Shesayssheusuallysleepsonanarmchair. On examination there is weakness of extension of her left elbow , a wrist drop and absentsensationoverthefirstinterosseusspaceofherlefthandonthedorsalaspect. Whereisthelesion?
A.Brachialnerve B.Radialnerve C.Ulnarnerve D.Musculocutaneousnerve E.C5C6rootatthebrachialplexus
Answer:b)Radialnerve. The weakness of extension of the elbow indicates weakness of the triceps, hence the lesion should be in the radial nerve, probably higher up at the axilla. Lesions of the radialnerveinthespiralgroovesparethetriceps.
WristDropinRadialNerveinjury
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BasicScience
BasicScienceQ135
A 27 year old man has hereditary spherocytosis (heterozygous) is married to an unaffectedfemale.Theyseekadviceregardinginheritanceofthecondition. Whatisthechanceoftheirchildbeingaffected?
A.0% B.25% C.50% D.75% E.100%
Answer:c)50%. Hereditary spherocytosis is inherited in an autosomal dominant manner and hence the chanceofthechildbeingaffectedis50%.
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BasicScience
BasicScienceQ136
A 49 year old man was admitted with chest pain. The ECG showed an anterior wall myocardial infarction. He initially settled, but after 48 hours, he complained of further chestpainwithECGchanges. Whichenzymeistheearliesttoriseinmyocardialinfarction?
A.LDH B.CKMB C.Myoglobin D.TroponinT E.AST
Answer:C)Myoglobin Myoglobin rises rapidly in myocardial infarction. A doubling of the enzyme within 2 hours is very suggestive of an MI. Troponin and CKMB start to rise after 3 hours, and LDHafter12hours.
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BasicScience
BasicScienceQ137
A20yearoldmanhasmetabolicacidosiswithapHof7.2. He has the following results: sodium 135 mmol/l, potassium 4.8 mmol/l, urea 8mol/l, creatinine110mol/l,chloride105(95107)mmol/l,bicarbonate18(2028)mmol/l. Whatishisaniongap?
A.16 B.16.8 C.17.2 D.18.6 E.20
Answer:B)16.8 Anion gap is calculated by the formula (Na + K) (Cl + [HCO3]). 135 + 4.8 105 18 = 16.8.Normalaniongapis816.
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BasicScience
BasicScienceQ138
Adifferentialdiagnosislistisbeingconsideredforachildwhoisshort. Whichofthefollowingabnormalitiesisassociatedwithshortstature?
A.47,XXYkaryotype B.47,XYYkaryotype C.45,XXXYkaryotype D.45,XOkaryotype E.FragileXsyndrome
Answer:d)45,XOkaryotype. Turnerssyndrome(45,XOkaryotype)isassociatedwithshortstature.
45,XOkaryotype
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BasicScience
BasicScienceQ139
Which one of the following complement deficiencies predisposes to susceptibility to meningococcalinfections?
A.C1 B.C2 C.C3 D.C4 E.C5
Answer:E)C5. C59 complements are part of the membrane attack complex which are important in protectionagainstorganismssuchasmeningococci.
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BasicScience
BasicScienceQ140
Whichofthefollowingisanendproductofporphyrins?
A.Bilirubin B.Globulin C.Haem D.Glycine E.Lactate
Answer:c)haem. The first step in the biosynthesis of haem is the condensation of glycine with succinyl CoA to form deltaaminolevulinic acid. This reaction occurs in the mitochondria and is negatively regulated by haem. The reaction pathw ay then proceeds through intermediate products porphobilinogen, uroporphyrinogen III, coproporphyrinogen III, protoporphyrinIX,andfinallyhaem.
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Porphyrinmetabolism
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BasicScienceQ141
A 40 year old female complains of tenderness in the radial aspect of his wrist. She is a professionalgolfplayer. With the thumb flexed across the palm of the hand, movement of the wrist into flexion andulnardeviationcausespain. Whatisthediagnosis?
A.DeQuervain'stenosynovitis B.Tenniselbow C.Golfer'swrist D.Ulnernervelesion E.Radialnervelesion
Answer:a)DeQuervain'stenosynovitis. The movements described above is the Finkelstein's test. This is diagnostic of De Quervain's tenosynovitis which is inflammation of the abductor pollicis longus and extensorpollicisbrevis.
Finkelstein'stest
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BasicScienceQ142
A 20 year old man has jaundice, but he has normal liver function tests apart from a raisedbilirubin. Whichoneofthefollowingenzymescatalysestheconjugationofbilirubin?
A.Amylase B.Glucose6phosphatase C.Glucuronyltransferase D.Xanthineoxidase E.Phenylalaninehydroxylase
Answer:c)glucuronyltransferase. Bilirubin is conjugated with glucuronic acid by the enzyme bilirubin uridine 5 diphosphateglucuronyltransferase(UGT). CriglerNajjar (CN) syndrome is a congenital familial nonhemolytic jaundice associated withhighlevelsofunconjugatedbilirubinduetoUGT1mutation. DubinJohnson syndrome is asymptomatic mild jaundice due to impaired excretion of bilirubin. In contrast to Gilbert's syndrome, the hyperbilirubinemia is conjugated and bileappearsintheurine.
ConjugationofBilirubincatalysedbyGlucuronylTransferase
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BasicScienceQ143
A40yearoldmanhasananteriormediastinalmassseenonCTscan. Whichofthefollowingisunlikelytobeacauseforthemass?
A.Thyroid B.Thymus C.Thoracicsarcoma D.Teratoma E.Tumour
Answer:c)thoracicsarcoma. The four Ts for mediastinal masses (anterior) are thyroid, thymoma, teratoma and tumour(lymphomas).
CTthoraxshowingalargemediastinalmass
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BasicScienceQ144
WhichoneofthesevitaminDproductsisformedintheliver?
A.1hydroxycholecalciferol B.24hydroxycholecalciferol C.25hydroxycholecalciferol D.24,25dihydroxycholecalciferol E.1,25dihydroxycholecalciferol
Answer:c)25hydroxycholecalciferol. The active form of vitamin D 1,25dihydroxycholecalciferol is formed by regulated hydroxylations. The 25alpha hydroxylation is performed in the liver, and the 1alpha hydroxylationinthekidney.
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BasicScienceQ145
Ingenetics,whatisthemeaningofgeneticmosaicism?
A.AnactivatedXchromosome B.RNAistranscribedintoDNA C.Anindividualhas2ormoregeneticcelllines D.Thereisalwaysthesamenumberofchromosomesinallcells E.Aformofchromosometrisomy
Answer:c)anindividualhas2ormoregeneticcelllines. A Barr body is an inactivated X chromosome. Mosaicism is as defined above it can compriseofcellsof46or47chromosomesinthesamezygote.
GeneticMosaicism
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BasicScienceQ146
An 20 year old woman with alpha 1 antitrypsin deficiency attends a genetics clinic for advicereagardingthelikelihoodofherpotentialchildwouldbeaffected. Whatismodeofinheritanceofthisdisease?
A.Autosomaldominant B.Autosomalrecessive C.Xlinkeddominant D.Xlinkedrecessive E.Polygenic
Answer:b)Autosomalrecessive. The inheritance of alpha 1 antitrypsin (A1AT) deficiency is autosomal recessive. The alleles,however,arecodominant,whichmeanseachalleleisresponsiblefor50%ofthe circulating A1AT level. The production of alpha1 antiprotease is controlled by a pair of genesattheproteaseinhibitor(Pi)locus.Themostcommon(90%)alleleisM(PiM),and homozygous individuals (MM) produce normal amounts of alpha1 antiprotease (serum levels of 2053 mmol/L). Deficient levels of alpha1 antiprotease are associated with alleleZ(MZorZZ).Serumlevelsgreaterthan11mmol/Lappeartobeprotectiveagainst emphysema. Emphysema develops in most (but not all) individuals with serum levels lessthan9mmol/L.
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BasicScienceQ147
An25yearoldmanhasDuchenne'smusculardystrophy. Whatchancesdoeshisdaughter'ssonshaveofinheritingthedisease?
A.100% B.50% C.25% D.10% E.0%
Answer:b)50%. Duchenne's muscular dystrophy is X linked. This patient is affected (XxY). His wife is likelytobeunaffected(XX). His daughters would all have the chromosome (XxX) all are carriers. Therefore his daughter'ssonswilleitherhavethechromosomeXxYorXYin50%chances.
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BasicScienceQ148
A 35 year old woman with a pruritic rash was diagnosed as having systemic mastocytosis.Serumhistaminewas2ng/ml(normal:0.31.0ng/ml). Whichoneofthefollowingistrueregardingmastcells?
A.Inmastocytosisthereisinsufficientmastcells B.Storagegranulescontainglucose C.Storagegranulescontainhistamineandleukotrienes D.ItisanIgGmediatedimmuneresponse E.Hightemperaturetriggersmastcellrelease
Answer:c)storagegranulescontainhistamineandleukotrienes. Mastocytosis is due to excessive mast cell stimulation. Storage granules contain histamine,leukotrienes, and lytic enzymes. It leads to anaphylactic like states urticaria, flushing and also GI symptoms such as diarrhoea and nausea. Mast cells are Ig E mediatedbutcanbetriggeredbyinjury,drugsandcomplementactivation.
CutaneousMastocytosis
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BasicScienceQ149
Whichoneofthefollowinghormonesisincreasedinhypoglycaemia?
A.Growthhormone B.Insulin C.Glucagon D.Somatostatin E.Thyroxine
Answer:c)glucagon. Glucagon secretion from the pancreas is increased by amino acids arginine and alanine, fasting(hypoglycaemia),stressfulstimuli.Glucagonisinhibitedbysomatostatin.
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BasicScienceQ150
ReversetranscriptasePCRisusedtoamplifywhichofthefollowing?
A.Proteins B.DNA C.RNA D.Ribosomes E.Plasmids
Answer:c)RNA Reverse transcriptase PCR is a w ay to amplify RNA. The RNA is transcribed into complementary DNA (cDNA) using enzyme reverse transcriptase. The cDNA is then amplifiedbyPCR.
ReverseTranscriptasePCR
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BasicScienceQ151
An 25 year old man was admitted with breathlessness. He has not been well for a few days. Hisarterialbloodgasesshow: pH7.22 pO215kPa pC023.2kPa bicarbonate14.7mmol/L baseexcess5. Whatisthispictureconsistentwith?
A.Acuteasthma B.Bulimia C.Paracetamoloverdose D.Acuteliverfailure E.Diabeticketoacidosis
Answer:e)diabeticketoacidosis. This patient has metabolic acidosis with respiratory compensation. The low bicarbonate and low pH suggests metabolic acidosis. In order to compensate, the body hyperventilates,blowingoffCO2andhavingarelativelyhighpO2.
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BasicScienceQ152
Whichoneofthefollowingdiseasesinvolvestumoursuppressorgenes?
A.Neurofibromatosis B.Sarcoma C.Down'ssyndrome D.Adenomatouspolyposiscoli E.Parkinson'sdisease
Answer:a)Neurofibromatosis. Two hits of the tumour suppressor genes are required for loss of regulation (e.g. loss of bothNF1genes). NF1 gene in neurofibromatosis, BRCA1 in breast and ovarian cancer, Rb gene and the VHLgeneinvolvetumoursuppressorgenes.TheoncogeneSRCisaffectedinsarcoma.
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BasicScienceQ153
Thescreeningprocedureinwhichanantibodydirectedagainstadesiredprotein,isused to examine bacterial transformants (for the presence of a specific recombinant) is referredtoasa:
A.McFadden'sblot B.Southernblot C.Northernblot D.Westernblot E.Easternblot
Answer:d)Westernblot. Western blot method uses antibodies to examine proteins immobilized to a membrane support. Southern blot uses a nucleotide sequence probe to examine DNA fragments separated bygelelectrophoresis,thentransferredtoandimmobilizedonamembranesupport. Northern blot uses a nucleotide sequence probe to examine RNA immobilized to a membranesupport. Easternblotdoesnotexist.
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BasicScienceQ154
A 45 year old man who has a renal transplant is on high dose long term steroids and immunosuppression.Heisabouttotravelabroadandseeksvaccinationadvice. Whichoneofthefollowingvaccinationsiscontraindicatedinthisman?
A.Yellowfever B.Haemophilus C.Meningococcus D.Tetanustoxoid E.Diphtheriatoxoid
Answer:a)yellowfever. Theyellowfeverisalivevaccine.Theseareotherexamples: measles,mumpsandrubella BCG poliomyelitisoralSabinvaccine typhoidoral

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BasicScienceQ155
Mutations in myosin have recently been found to underlie the disease familial hypertrophiccardiomyopathy. Whichoneofthefollowingregardingmyosiniscorrect?
A.Itisnotinvolvedinstriatedmusclecontraction B.Formfilamentsinahexamericarrayof2heavychainsonly C.Myosinchainmutationisnotassociatedinfamilialhypertrophiccardiomyopathy D.Carneycomplexisnotaformofmyosinchaindisorder E.TherearesitesonmyosinwhichallowforATPandactinbinding
Answer:e)TherearesitesonmyosinwhichallowforATPandactinbinding. Myosinisinvolvedinstriatedmusclecontraction. Itformsfilamentsinahexamericarrayof2heavychainsand2pairsoflightchains. Myosin heavy chain mutation is implicated in familial hypertrophic cardiomyopathy. HOCMandCarneycomplexareformsofmyosinchaindisorders.
TherearesitesonmyosinwhichallowforATPandactinbinding.
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BasicScienceQ156
A55yearoldmanhasbeendiagnosedwithBurkittsLymphoma. Whichgenemutationisassociatedwiththiscondition?
A.BRAF B.P53 C.Cmyc D.Nmyc E.BcrAbl
Answer:C)Cmyc. In Burkitts lymphoma (associated with Ebstein Barr virus), genetic translocations e.g. t(8:14)leadtoconsequentcmycrearrangementandoverexpression.
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BasicScienceQ157
A 18 year old girl has had a 3rd presentation with meningocccal meningitis. An immunologistsuspectsaproblemwithherimmunesystem. Whichofthesearemostlikelytobedefective?
A.Macrophages B.IgGorIgM C.Neutrophils D.Lymphocytes E.ComplementC59
Answer:e)complementC59. Neisseria infection leading to meningococcal meningitis often occurs in patients with complement deficiencies of C59. Complements C5C9 form the Membrane Atttack Complex.Deficienciesinthesecomplementsleadtodepressedbactericidalactivity.
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BasicScienceQ158
A 30 year old man was admitted with status epilepticus. He is given intravenous diazepam. Arterial blood gases on 15 l/min via reservoir bag mask showed pH 7.05, Paco2 8 kPa, Pao215kPa,andstandardbicarbonate16mmol/l. Hisotherresultsweresodium140mmol/l,potassium4mmol/l,andchloride98mmol/l. Whatistheacidbasedisturbance?
A.Hyperchloraemicmetabolicacidosis B.Normalaniongapmetabolicacidosis C.Highaniongapmetabolicacidosis D.Lowaniongapmetabolicacidosis E.Respiratoryacidosis
Answer:c)highaniongapmetabolicacidosis. This patient had acidosis with both a high PaCO2 and a low standard bicarbonatea mixedacidosis.Theaniongapwas30mmol/l(increased). The PaO2 is lower than expected because the patient was breathing around 70% oxygen. This fits with the the clinical picture: he had a lactic acidosis from prolonged fittingandarespiratoryacidosisfromintravenousdiazepam.
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BasicScienceQ159
Which of the following tumour suppresor genes is a tumour suppresor gene involved in promotingapoptosisandprogrammedcelldeath?
A.BRCA1 B.P53 C.Bcl2 D.Ras E.Rb
Answer:b)p53. Rasisanoncogene.Bcl2inhibitsratherthanpromotesapoptosis.
p53tumoursuppressorgene
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BasicScienceQ160
Whichoneofthefollowingisatrinucleotiderepeatdisorder?
A.FragileXsyndrome B.Duchenne'smusculardystrophy C.MultipleSclerosis D.Klinefelter'ssyndrome E.Turner'ssyndrome
Answer:a)FragileXsyndrome. FragileXsyndrome, myotonic dystrophy,Huntington'sdiseaseandFriedrich's ataxia are trinucleotiderepeatdisorders.

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BasicScienceQ161
Theparentsofachildwithcysticfibrosiswanttoknowtheriskoftheirnextchildbeing acarrierofthecondition,riskofthechildbeingnotaffectedoraffected. WhichONEofthefollowingisthecorrectriskforthechildbeingonlyacarrier?
A.10% B.25% C.50% D.75% E.100%
Answer:c)50%. CysticFibrosishasautosomalrecessiveinheritance. As both parents are carriers (AxA,BxB) of the Cystic Fibrosis gene, then chances of anotherchildbeingaffected(AxBx)is1in4(25%). ThechancesoftheirchildbeingfreefromtheCFgene(AB)isalso1in4(25%). Thechancesofachildbeingacarrier(AxBorABx)is1in2(50%).
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BasicScienceQ162
Whatformofvirusistheherpesvirus?
A.TriplestrandedRNAvirus B.SinglestrandedRNAvirus C.SinglestrandedDNAvirus D.DoublestrandedRNAvirus E.DoublestrandedDNAvirus
Answer:e)doublestrandedDNAvirus. HerpesvirusisadoublestrandedDNAvirus.
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BasicScienceQ163
A 50 year old man complains of visual loss. On examination, he has right sided homonymousinferiorquadrantinopia. Whichoneofthefollowinglesionsislikely?
A.Leftsidedtemporalarea B.Leftsidedparietalarea C.Occipitallobe D.Opticchiasm E.Opticnerve
Answer:b)leftsidedparietalarea. A contralateral lower parietal lesion causes lower homonymous quadrantinopia as described.
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BasicScienceQ164
Westernblottingisusedtodetect:
A.DNA B.RNA C.Protein D.Antibodies E.Enzymes
Answer:c)protein. Westernblottingcanbeusedtodetectandquantifyproteins(e.g.bovineprotein).
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BasicScienceQ165
Whichoneof thefollowing featuresisconsistentwith highercorticalinvolvementrather thanadiagnosisofasubcorticallacunarstroke?
A.Ataxia B.Dysarthria C.Dysphasia D.Puremotorfeatures E.Puresensorysymptoms
Answer:c)dysphasia. Evidence of higher cortical involvement, for example dysphasia, dyscalculia or or disturbanceofconsciousness,wouldnotbeconsistentwithalacunarsyndrome.
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BasicScienceQ166
Whichoneofthefollowingbloodgasresultsmaybeananalyticalerror?
A.PH7.6,PaCO22,PO213,Bicarbonate30 B.PH7.3,PaCO27,PO210,Bicarbonate14 C.PH7.5,PaCO28,PO210,Bicarbonate14 D.PH7.5,PaCO26,PO212,Bicarbonate26 E.PH7.2,PaCO29,PO29,Bicarbonate12
Answer:C)pH7.5,PaCO28,PO210,Bicarbonate14. The patient has a high CO2 and low bicarbonate which would suggest uncompensated respiratoryacidosis,hencethepHistoohightofitthescenario.
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BasicScienceQ167
WhichofthefollowingisamplifiedbyreversetranscriptasePCR?
A.RNA B.LinearDNA C.CircularDNA D.Glycoproteins E.Reversetranscriptaseenzyme
Answer:a)RNA. Reverse transcriptase PCR is used to amplify RNA, w hilst conventional PCR is used to amplifyDNA.
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BasicScienceQ168
Adrenalineisaproductofwhichaminoacid?
A.Arginine B.Glutamine C.Valine D.Lysine E.Tyrosine
Answer:e)Tyrosine. Dopamine,adrenalineandnoradrenalinearederivedfromtyrosineviatheintermediate dopa.
Adrenalinesynthesis
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BasicScienceQ169
WhichoneofthefollowingbreaksdownintoGlucoseandGalactose?
A.Ribose B.Sucrose C.Fructose D.Lactose E.Phosphofructose
Answer:D)Lactose. Lactoseisbrokendownintoglucoseandgalactosebyanenzymecalledlactase.
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BasicScienceQ170
A 75 year old lady has sudden movements of her arm where she throws her arm outwards,anduncontrollablyinjuresherself. Whichofthefollowingareascouldhavesustainedaninfarct?
A.Globuspallidus B.Pontinenucleus C.Corpuscallosum D.Subthalamicnucleus E.Thalamus
Answer:d)subthalamicnucleus. Hemiballismus is caused by a subthalamic nucleus lesion, which is commonly due to an infarct.
SubthalamicNucleus

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Answer:c)Hypothyroidism. Growthmonitoringcanaiddetectionofthefollowingconditions: hypothyroidism growthhormoneinsufficiency Turners&Noonan'ssyndrome,skeletaldysplasias coeliacdisease,inflammatoryboweldisease intracranialtumours

Answer:D)Hypokalemia Bartterssyndromeischracterisedby: hypokalaemicalkalosis,elevatedreninandaldosteronelevels

Answer:C)Foundonchromosome17 NeurofibromatosiscanbeduetoadefectofeithertheNF1orNF2gene. TheNF1geneisfoundonchromosome17inheritedinanautosomaldominantfashion. TheNF2geneisfoundonChromosome22.

A55yearold carpenterhaspainin his shoulder.On examination, therewaspainduring resistanceofabduction. Whichmuscleislikelytobeinvolved?

A60yearoldwomanhashyponatraemia.Followinginvestigation,shewasdiagnosedas havingSIADH. Whichofthefollowingisthemostlikelycause?

Answer:a)metabolicacidosiswithrespiratorycompensation. Thepatientislikelytohaveoverdosedonmetforminandhasmetabolicacidosis.ThepH isacidoticandsheishyperventilatingforrespiratorycompensationofacidbasebalance, hencethelowCO2andhighO2

Answer:c)sciaticnerve. Thesciaticnervebranchesintothetibialnerveandcommonperonealnerve.Damageto thesebrancheswillcausealmosttotalweaknessaroundtheankleandabsentanklejerk.

A40yearoldmanpresented2yearsagowithaninheritedneurologicaldisordercausing weakness.Hisfatherdevelopedthediseaseinhis70sandhisdaughterwasborn5years agowithasevereformofthecondition.Hismother,sister,wifeandsonareunaffected. Whatisthelikelymodeofinheritance?

A20yearoldpatienthasbeenkickedintheshinduringanaggressivefootballmatch.He isunabletoeverthisfootanddorsiflexhisankle. Whichnerveisinjured?

Answer:c)ReducedexpressionofLDLreceptors. Thecharacteristicsoffamilialhypercholesterolaemiaare: autosomaldominantcondition increasedLDLconcentrations reducedHDLconcentrations reducednumbersofLDLreceptor cardiovasculardisease tendonxanthomatas

A30yearoldladyhaspalpitationsandissubsequentlyconfirmedtohavethyrotoxicosis duetoGrave'sdisease. Whichofthefollowingstatementsistrue?

Activationofthecomplementcomponentsisassociatedwithpotentbiologicalfunctions tocounteractinfections. Whichofthefollowingactivatesratherthaninhibitsthecomplementpathway?

Answer:e)caudaequina. Thecordistaperedatthelowerendtoformtheconusmedullaris. Therootsofthelumbarandsacralnervesarelongandtheyformthecaudaequina.

A40yearoldwomanhasMELAS. Whichofthefollowingiscorrectregardingtheriskofthegrandsonsandgranddaughters havingthedisease?

Answer:a)Autosomaldominant. Theconditiondescribedisneurofibromatosis.Inheritanceisautosomaldominant. ThegenedefectforNF1isonchromosome17,andforNF2isonchromosome22.

Answer:c)Hexokinase. Hexokinase catalyses the conversion of glucose to glucose6phosphate, using a phosphategroupdonatedfromATP.

Answer:d)Obturatornerve. Theobturatornervesuppliesgracilis,theadductor(longus,brevis,magnus)andtheskin overthemedialaspectofthethigh.

Answer:D)reducedoestrogenmetabolism. Gynaecomastiainliverdiseaseisduetoanimbalanceinandrogenandoestrogenlevels, themaincontributorbeingreducedoestrogenmetabolism.

Answer:A)median Themediannervesuppliesthefollowingsmallmusclesinthehands: Abductorpollicisbrevis Opponenspollicis Flexorpollicisbrevis 1st&2ndlumbricals Thesensorysupplyistopalmarsurfaceofthumb,2nd,3rd&lateral1/2of4thfinger

Answer:c)PraderWillisyndrome. Genomicimprintingisexhibitedbythefollowingconditions: PraderWillisyndrome Angelmansyndrome BeckwithWiedemannsyndrome

Answer:C)279. Plasmaosmolalityisestimatedbythefollowingformula2xNa+Urea+glucose.262+5 +12=279(mmol/kg).Anexample:highserumosmolalitycouldbecausedbyHONK.

Answer:b)autosomalrecessive. Cysticfibrosisiscausedbyagenemutation(CFTRgene)onthelongarmofchromosome 7.Itisautosomalrecessive.

Answer:c)injuryaroundinternalcarotidartery. AllarepotentialcausesofHorner'ssyndrome.However,thesympatheticplexusaround theinternalcarotidarterysuppliesthemedialsideoftheforehead,henceanhydrosisto thatregionspecificallypointstowardsinjurytotheinternalcarotidarteryatthatsite.

Answer:e)AcetylCoenzymeA. Betaoxidationistheprocessbywhichfattyacidsarebrokendowntosmallerunitssuch thatsubstancessuchasAcetylCoenzymeAcanenterthecitricacidcycle.

Answer:a)yellowfever. Theyellowfeverisalivevaccine.Theseareotherexamples: measles,mumpsandrubella BCG poliomyelitisoralSabinvaccine typhoidoral

Answer:a)FragileXsyndrome. FragileXsyndrome, myotonic dystrophy,Huntington'sdiseaseandFriedrich's ataxia are trinucleotiderepeatdisorders.

Answer:e)Tyrosine. Dopamine,adrenalineandnoradrenalinearederivedfromtyrosineviatheintermediate dopa.

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