1.

1. 2. 3. 4. 5. 6.

Gene is{sequence of DNA / length of DNA / bases / codons / nucleotides}; Occurs at a specific {point / locus} on a chromosome; (Its function is to) codes for {proteins / polypeptides}; Alleles are {different / alternative} forms of a gene; Usually two or more alleles for each gene / reference to multiple alleles; Only one allele will be present at a locus; 4
[4]

2.

(a)

Parents Hh and hh; Gametes of each parent shown; Correct genotypes of offspring Hh and hh; Probability 50% / 1 in 2 / 0.5 / eq; 4

(b)

(i)

Level one answers introduce a relevant idea 1. 2. 3. 4. 5. Reduce risk of heart disease; Allows early medical intervention / prenatal testing / abortion / decision not to have children; Allows a change in lifestyle; Able to reduce risk factors; Named risk factor;

6. 7. 8. 9. 10. 11.

Able to monitor cholesterol levels; Take diuretic drugs / sympathetic nerve inhibitors lowers blood pressure; Use beta-blockers reduces heart rate and blood pressure; Use {anticoagulant / platelet inhibiting drugs / clot busting drugs} reduces the risk of a clot forming; Eat less salt to reduce blood pressure; Have a low fat diet / reduce intake of cholesterol / take {stanins / stanols / other cholesterol lowering drugs} / have a more balanced diet / eat less saturated fat / eat more fibre / eq prevents the build up of {fatty plaques / atheromas / atherosclerosis / narrowing arteries}; Eat five portions of fruit or vegetables a day / take vitamin supplements / take antioxidants prevents cellular damage due to free radicals; Exercise more - to increase strength of cardiac muscle / make heart stronger / help prevent build up of {atheroma / fatty plaques} / reduce fat (burns fat) / reduce BMI / reduce risk of obesity / eq; Stop smoking to reduce {nicotine / free radical} levels; Reduce stress lowers blood pressure; Avoid heavy drinking avoid risk of damaging {heart tissue / liver tissue} / reduce LDL production; [If there are level one answers only, allow a maximum of two marks] 4

12.

13.

14. 15. 16.

(ii)

Depression / stress OR Cost of screening to NHS / eq OR Problems with life insurance company / confidentiality / eq OR May decide not to have children / increased number of abortions / increased chance of miscarriage / ethical {considerations / issues} (related to testing / abortion) / problems of false {negative / positive} results;

1
[9]

3.

(a)

Alters a codon / changes genetic code / changes base sequence / correct named example of point mutation / reference to frameshift; Results in substitution of one amino acid for another / changes amino acid sequence / eq; During translation; [Only award points in context]

(b)

Genotypes of gametes (shown circled or in Punnett square); Correct genotypes of children; Probability 0.25 / eq; 3

(c)

Restriction enzymes {cut DNA at specific point / recognise specific base sequence / are specific / eq}; This sequence is altered in the haemoglobin S allele / eq; Therefore does not cut at this point / produces fragments of different sizes / cuts at different position; 3
[8]

4.

(a)

1. 2. 3. 4. 5. 6. 7.

Test is inexpensive; Test is reliable / no false positives / eq; Test is {simple / painless / eq}; Quick turnaround of results; Counselling follow-up; Education about the test / advertise the test; Confidentiality; Amniocentesis / chorionic villus sampling; 1. 2. 3. 4. Reference to extraction of DNA (from cells) / eq; Use of restriction enzymes; Gel electrophoresis; Any detail of gel electrophoresis e.g. {large and small sections / positive and negatively charged sections} separate; Southern blotting / use of nylon sheet / eq; Correct reference to use of gene probe; Detail of (gene probe) e.g. {complementary / radioactive}; Reference to comparison to identify the gene; 4 2 1

(b)

(i) (ii)

5. 6. 7. 8.

(c)

(i) (ii)

4440; 1. 2. 3. 4. Change in amino acid sequence / primary structure; Affects the (specific) shape / tertiary structure of the protein; Channel does not allow passage of chloride ions; Does not allow chloride (ions) to leave epithelial cells; Chloride (ion concentration) builds up in the cell; Causes water to move into the cell; By osmosis; Loss of water from mucus makes it sticky / eq;

(iii)

1. 2. 3. 4.

2
[12]

5.

(a)

Suitable symbols used (dominant upper case, recessive same letter lower case); Parent gamete shown; F1 genotype; F2 genotypes; F2 phenotypes related to genotypes; F2 genotypes related to 3:1 ratio; [Maximum of 3 marks if suitable symbols not used] 4

(b)

(Back) cross to suitable recessive plant / self fertilise; Examine phenotypes of offspring; Suitable ratios e.g. if back cross then (phenotypes) offspring all dominant or 1:1 dominant : recessive / if self fertilise all dominant or 3:1 dominant : recessive; Linked to explanation i.e. if all dominant then F2 plant is homozygous / if mix of dominant and recessive then F2 plant is {heterozygous / carrier / eq};

2
[6]

6.

(a) (b)

1. 2. 1. 2. 3.

Alternative form of a gene / eq; At the same locus / eq; Reference to {amniocentesis / chorionic villus sampling}; Taken from {amniotic fluid / fetal membranes / chorionic villus}; Using {instrument / syringe / eq} inserted through {abdominal wall / uterine wall / cervix / vagina}; 2 2

(c)

(i)

1. 2. 3. 4.

0.25 / 25% / / 1 in 4; F and G are both {carriers / heterozygous} for MSUD; Because {they have a child with MSUD / J has MSUD}; (Fourth child would) have to {be homozygous for MSUD / inherit MSUD from each parent} to have the disorder. Female F {inherited / eq} MSUD allele from one of parents; (Therefore) at least one of them is {a carrier / heterozygous} (for MSUD); No evidence that both A and B are {carriers / heterozygous}; Because neither {of their children have / E or F has} MSUD; 2
[9]

(ii)

1. 2. 3. 4.

7.

(a)

A change or damage to a gene / DNA / chromosome / allele / change in base sequence (on DNA); (i) Parents phenotypes: Parents genotypes: (ii) Genotype TT Tt tt Phenotype normal normal thalassemia Frequency 1//25% 2//50% 1//25% normal / unaffected and normal / unaffected; [Reject carrier Tt and Tt;

(b)

Phenotypes correctly assigned; [Allow carrier e.c.f.] Frequencies correctly given; 2

(iii) (iv)

3 in 4 /

3 / 75% / 0.75; 4

Genetic screening / amniocentesis / chorionic villus sampling / IVF / embryo screening; [Allow genetic testing]

1
[7]

8.

(a) Description of the stages for gene therapy: Plasmids inserted into liposomes. Gene for CFTR protein isolated using a restriction enzyme. Liposomes enter cells of lung tissue; normal allele is expressed. Plasmid cut with the same restriction enzyme. Normal CFTR gene inserted into plasmid using DNA ligase Liposomes taken as nasal spray. All 5 correct 4 marks, 3 correct 3 marks, 2 correct 2 marks, 1 correct 1 mark. (b) Cells (lining the lung die and) need to be replaced / replacement cells do not contain the new gene /eq; (i) 1. 2. 3. Germ line gene therapy affects gametes / gamete producing cells; Somatic gene therapy affects body cells; Somatic gene therapy cannot be passed onto next generation /converse; Idea of germ line gene therapy affecting every cell in the body; Germ line gene therapy can pass genes on to next generation / eq; Future generations unable to give consent; May result in designer babies / eugenics / can cause new mutations; 2
[9]

sequence of stages for gene therapy: 4 [1] 6 2 3 5

(c)

(ii)

1. 2. 3. 4.

[Allow converse somatic gene therapy will not cause new genes to be passed onto the next generation/eq]

9.

(a)

parents genotypes shown (Nn and t) parents gametes shown (Nn for both); son NN and daughter nn (i) (i) amniocentesis / chorionic villus sampling /CVS peace of mind if result is negative / can consider abortion / can prepare for another child with cystic fibrosis

3 1 1
[5]

(b)

10.

(a)

(i) (ii)

codominance; 1 chevron + 2 mixed + 1 patch; (genotypes of parents:) VPVC and VPVC; correct gametes shown for each; cross correct to give genotypes; genotypes matched with phenotypes;

1 1

(iii)

1. 2. 3. 4.

(b)

1. 2. 3. 4. 5. 6. 7.

both involve single {gene / allele pair / locus}; ref. to codominance in both / eq; NOT just A and B, must use IA and IB ref. to multiple alleles in blood groups / ABO involves three alleles, clover patterns only two alleles / eq; ref. to dominance of {IA / IB} over IO / IO is recessive to {the others / IA / IB }; no {dominance shown / recessive allele} in clover patterns; the ABO blood group has 4 phenotypes, the clover pattern has 3 phenotypes; both show {discontinuous / discrete} variation; 4
[9]

11.

(a)

mothers and fathers genotypes correctly stated e.g. mother Aa and father aa; gametes shown clearly and correctly; F1 genotypes clearly linked to phenotypes; probability 50% / 0.5 / 1 in 2 / / eq; (i) amniocentesis / chorionic villus sampling / CVS / pre-implantation genetic diagnosis / PIGD;

(b)

(ii)

1. 2. 3. 4. 5. 6. 7. 8. 9. 10.

extract DNA from cells; cut DNA using a restriction enzyme; gel electrophoresis; credit one further correct detail of gel electrophoresis; treat with alkali / make DNA single stranded; southern blotting / transfer to a {nylon/nitrocelluose} membrane; use of a gene probe; further detail of a gene probe (complementary sequence / radioactively labelled / fluorescent marker / eq); disclosure {x-ray film / UV light / laser}; comparison with marker gene; 5
[9]

12.

(a)

(i)

BBhh black, long hair; bbHH white, short hair; BbHh; BbHh x bbhh; bh BH BbHh Bh Bbhh bH bbHh bh bbhh 1 for gametes correct; 1 for offspring correct; 1 for phenotypes: black short, black long, white short, white long;

1 1

(ii) (b) (i)

(ii)

new combinations of characteristics/alleles; in offspring but not parents; example;

(c)

mutation produces new alleles/changes DNA /eq; independent assortment mixes alleles/ new combinations of alleles;

2
[10]

13.

(a)

has gene(s) which increase chance of developing CVD / eq; named example of gene (e.g. SRY, APOE4, AZE, MTHFR); genes do not necessarily mean you will develop the disease /eq; {other risk factor / named risk factor}also contributes to chance of developing CHD; 3

(b)

more than one gene can (cause the condition) / the condition is caused by different genes in different people; one copy of APOE4 increases risk (3 fold / 2 copies increases risk 8 fold) in French people; Alzheimers tends to affect the elderly / eq; high rate of death among pygmies (due to {disease / accidents}) means that few survive to an age where Alzheimers will be seen / eq; APOE4 may be less dangerous to {pygmies / Africans} than Europeans/ environmental differences / eq; APOE4 has negligible effect on reproductive success so may not be selected against / invisible to natural selection / eq;

(c)

(d)

Falling childhood mortality rates / {elimination / reduction} of most fatal childhood infectious diseases / eq; reproduction is less common when food is in short supply; less energy / resources given over to reproduction (when energy / food is in short supply); {energy / calorie} deprived flies reduce gene expression for genes involved in reproduction; {energy / calorie} deprived flies increase gene expression for genes involved in the immune system; enhanced immune system; immune system protects against {disease / other causes of ageing / cancer / diabetes / autoimmune disease}; restricted growth aids survival; ref. IGF; marsupial mice spend most of their adult life copulating and die young; restricted diet may result in fewer free radicals being released;

(e)

(f)

superoxide dismutase protects against free radicals / few free radicals means less damage to DNA / eq; {SOD(1)/overactive superoxide dismutase} may cause {amytrophic lateral sclerosis (ALS)/neurological disease/Lou Gehrig disease/early death}; SOD may kill neurones / eq; SOD linked to Downs syndrome; free radical theory of aging may be wrong / eq; gene may {have other roles / moonlight} (that may be harmful); SOD results in production of {hydrogen peroxide / H2O2}; need balance between SOD and catalase to avoid damage / eq; 3

(g)

(i)

MARKS IN THIS SECTION NEED TO BE IN CONTEXT identify the gene responsible for the disease; {use of / design} a gene probe for the disease gene; further detail of probe (e.g. complementary to gene / radioactively labelled / fluorescently labelled); extract DNA from patient / cheek cell swab / eq; {cut / digest} DNA using restriction {enzymes / endonuclease}; separate DNA using gel electrophoresis; further detail of gel electrophoresis; [e.g. use of {agarose/polyacrylate} gel / apply {current through/ pd across} / DNA moves towards anode / smallest fragments move {fastest / furthest}] treat with alkali to make DNA single stranded; southern blotting / transfer onto a {nylon/nitrocellulose} membrane; disclosure using x-ray film / UV light / laser; provide counselling (with results); ask for family history of the disease/eq; 4

(ii)

advantage: can avoid passing disease onto children if negative / if positive can use Preimplantation Genetic Diagnosis / eq / change diet to delay {onset/symptoms} of disorder / peace of mind with negative result / suitable ref. to existing children / choose not to have children (if positive) to avoid passing on / eq; disadvantage: no known cure available so increased stress with positive result / worry that subsequent children may inherit the disease / eq / insurance discrimination / high insurance premiums / ref to abortions / may choose not to have children due to risk / eq / increased risk of miscarriage (due to antenatal screening);

2
[20]

10

14.

(a) (b)

(nitrogenous / organic) base / named base; 1. 2. 8 double strands drawn; 2 hybrid and rest all light DNA;

2 1 1

(c) (d) (e)

DNA polymerase / helicase / DNA ligase / primase / eq; TCG AAT GGT; 1. 2. 3. 4. 5. 6. 7. 8. correct reference to description of gene mutation; change {mRNA / codon / eq}; {different / wrong / no} amino acid included / stop codon; different / eq {sequence of amino acids / primary structure of protein}; different R groups; change bonding in protein / correctly named bond(s); protein forms different {secondary / tertiary / quaternary} structure; different (3D) shape;

max 5
[10]

15.

(a)

1. 2. 3. 4.

cross over recombines existing alleles; mutation produces new alleles / changes DNA; mutations happen in any cell division / cross over only occurs in meiosis; mutations more likely to be non-viable; max 2

(b)

(i) Genotype RLT rlT RlT RLt Rlt rLt 2 marks all correct, lose one mark per error (ii) 1. (Parents) RRTT rrtt;
11

Tick

2. 3. 4. 5. 6. 7.

(Gametes) RT rt; (F1) RrTt; (Gametes) RT, Rt, rT, rt; (F2 genotypes) R_T_, R_tt, rrT_, rrtt; 9:3:3:1; Correct phenotypes (purple present, purple absent, red present, red absent); max 5
[9]

16.

(a)

(i)

1. 2. 3. 4.

(one of) {alternative / different} forms of a gene / eq; reference to responsible for determining different varieties of one characteristic; idea of each allele has unique sequence of bases; (allele)situated at a (gene) locus / eq; appearance / characteristics (of an organism) / eq; depends on genotype and environment; 2 max 2

(ii)

1. 2.

(b)

1. 2. 3.

gametes shown correctly; genotypes of offspring; probability = 0.33 / / 33%; idea that ears etc., have a lower temperature (than the rest of body); (therefore) enzyme is {active / not denatured / eq}; pigment produced / eq; no pigment produced in other parts because enzyme is {inactive / denatured} / eq; max 3
[10]

(c)

1. 2. 3. 4.

12

17.

(a)

(i)

CH 2 OH HO H O H OH H H OH OH H H OH

CH 2 OH O H OH H
glucose

H OH

H OH

galactose; (ii) 1. 2. 3. breaking of (glycosidic) bond / eq; {addition of / using} water / eq;

breaking larger molecule(s) into smaller molecules / named example other than lactose to glucose and galactose OR disaccharide being broken into two monosaccharides; reference to {hydrolytic / named} enzyme; Parents genotypes : Gg / gG for both parents and parents gametes: G g for both parents; Possible genotypes of second child: GG Gg Gg gg; 3 max 2

4. (b) (i) 1.

2. 3.

Probability of not having the condition: 0.75 / 75% / ; more than one {triplet / codon / eq} may code for same amino acid; third base in {triplet / eq} often not important / eq; at 3rd base {point mutation / base changes / eq}; amino acid swapped but does not change shape of protein / eq; (mutation occurs) in intron / eq;

(ii)

1. 2. 3. 4. 5.

max 2

13

(iii)

1. 2. 3. 4. 5. 6.

risk of miscarriage; risk of harm to {fetus / eq} / eq; reference to a fetus right to life; should the pregnancy be terminated / eq; {practical / financial} issues; mental and emotional issues; max 3
[12]

18.

(a)

Arginine alanine threonine glutamine glycine Accept arg ala thr glu gly 2 [All correct = 2 marks, one mistake = 1 mark, more mistakes = no marks] 2

(b)

ACT Accept adenine cytosine thymine thiamine 1

(c)

AGA GCC ACC CAG GGU [All correct = 2 marks, one mistake = 1 mark, more than one mistake = no marks] 2

(d)

(i)

Award one mark for each of the following points in context to a maximum of two marks. 1. 2. 3. alanine would replace threonine; {primary/secondary} structure would be altered; 3D shape would not be correct / eq; Max 2

(ii)

Award one mark for each of the following points in context to a maximum of two marks. 1. 2. 3. a stop signal would be inserted; the protein would be shorter/eq; protein would be 46 amino acids long/eq; Max 2
[9]

14

19.

(a)

Award up to three marks for the following in context 1. 2. 3. 4. 5. (thin wall) of {squamous/flattened} (epithelial cells); small diffusion distance; ref to blood flow in capillaries; ref to ventilation; maintains {concentration/diffusion} gradient of {gases/carbon dioxide/oxygen}; Max 3

(b)

Award up to two marks for the following in context 1. 2. 3. 4. mucus builds up in airways; cilia cannot move it because it is thick/eq; reducing ventilation (below blockage); gas exchange occurs over {fewer alveoli / smaller surface area}; Priya Zac / Samir 0.25; Accept , 1 in 4, 25% Reject 1:3, 1 to 3 1 Max 2 1 1

(c)

(i) (ii) (iii)

15

(d)

Award one mark for identifying a potential benefit and a further mark for an explanation of the benefit. For example 1. 2. or 3. 4. determine whether or not embryo has disease; informed decisions can be made about {future care for child / termination of pregnancy} / treatment could start immediately; to determine whether or not a parent is a carrier; therefore can make informed decision about having children;

Award one mark for identifying a potential disadvantage and a further mark for an explanation of the disadvantage. For example 5. 6. or 7. 8. other abnormalities may be found; some social implication e.g. life insurance, finding {partner / job}, depression; 4
[12]

ref to false positives / negatives; decisions on whether to terminate a pregnancy or not are based on wrong information;

16