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14 Mendel and the Gene Idea Drawing from the Deck of Genes -1800s "blending" hypothesis; genetic material mixes like two colors to create new color, offspring's traits -over generations uniform population of individuals comes about -"particulate" hypothesis: the gene idea; genes like a deck of cards, ca n be shuffled and passed along generations Mendel used the scientific approach to identify two laws of inheritance -Mendel began bredding garden peas in abbey garden in 1857 -character:heritable feature varies among individuals such as flower col or -trait:variant for a character peas available in many varieties, short generation time, and large numbe r of offspring -he focused on characters that occurred in two distinct, alternative for ms; ex. white or purple flowers -true-breeding: over many of generations of self-pollination, produce on ly same variety of parent plant -hybridization: crossing, mating of two true-breeding varieties The Law of Segregation -Mendel concluded dominant trait and recessive trait in flowers based on offspring's color Mendel's Model (The Law of Segregation) 1)alternative versions of genes(called alleles) account for variatinos in inherited characters 2)for each cahracter, an organism inherits two copies of a gene, one from each parent 3)if the two alleles at a locus differ, then one, the do minant allele, determines the organism's appearance; the other, the recessive allele, has no noti ceable effect on the organism's appearance 4)the two alleles for a heritable character segregatej(s eparate from each other) during gamete formation and end up in different gametes -Punnett sqaure: used to predict allele composition of offspring from a cross -homozygous:organism with pair of identical alleles for a charac ter -heterozygous: difference alleles -testcross:breeding organism of unknown genotype with recessive homozygote, reveals genotype The Law of Independent Assortment -Mendel came to Law of Segregation using following of single cha racter; ex. flower color -monohybrids: heterozygous for one particular character -second law of inheritance Mendel followed two characters at sam e time; ex. seed color and seed shape -dihybrids:individuals heterozygous for two characters being fol lowed in the cross -law of independent assortment: each pair of alleles segregates independently of each other apir of alleles during gamete formation The laws of probability govern Medelian inheritance The Multiplication and Addition Rules Applied to Monohybrid Crosses -multiply probabilities of each event -addition rule: prob. that any one of two or more mutually exclu sive events will occur calculate by adding individual prob. Inheritance patterns are often more complex than predicted by simple Mendelian g enetics

-some genes, neither allele completely dominant (incomplete domi nance) -codominance: two alleles each affect phenotype in sparate, dist inguishable ways The Relationship Between Dominance and Phenotype -Tay-Sachs disease:inherited disease in humans, brains c ells of child with Tay-Sachs cannot metabolize certain lipids b/c a crucial enzyme does not work properly;lipids accum ulate in brain cells, child sufferes seizures, blindness, degeneration of motor and metal performance, dies -to determine whether allele appears dominant, inomplete ly dominant, or codominant depends on level (organismal, biochemical, molecular)at which phenotype analyzed Frequency of Dominant Alleles -sometimes recessive allele more prevalent than dominant allele Multiple Alleles -most genes exist in more than two allelic forms Pleiotropy -gene having multiple phenotypic effects; ex. mu ltiple symptoms associated with certain hereditary diseases such as cystic fibrosis and sickle-cell disease Extending Mendelian Genetics for Two or More Genes Epistasis -phenotypic expression of a gene at one locus alters tha t of a gene at a second locus Polygenic Inheritance -quantitative characters: classification such as human s kin color and height -polygenic inheritance: indicated by quantitative variat ion;an additive effect of two or more genes on a single phenotypic character -skin pigmentation evidently controlled by three separat ely inherited genes Nature and Nurture: The Environmental Impact on Phenotype -genotype associated with range of phenotypic possibilities(norm of reaction) due to environmental influences -multifactorial: describing both genetic and environmental influ ence on phenotype Many human traits follow Mendelian patterns of inheritance Pedigree Analysis -humans not ideal subjects to be tested on -using family pedigree, collecting info about family's history o r mating that has already occurred Recessively Inherited Disorders The Behavior of Recessive Alleles -carriers:heterozygotes transmit recessive allel e to their offspring -genetic disorders not evenly distributed among all groups of people -consanguineous ("same blood") mating. close rel atives more likely to pass on recessive alleles Cystic Fibrosis -most common lethal genetic disease in U.S. -chloride transport channels defective or absent ; abnormally high concnetration of extracellular chloride, causes mucus that coats certain cells to become thicker and sticker; builds up in pancreas, lungs, digestive tract leading to poor

absorption of nutrients from the intestines, chronic bronchitis, and recurrent bacterial infections Sickle-Cell Disease -most common inherited disorder among people of African descent -caused by substitution of a single amino acid i n the hemoglobic protein of red blood cells; oxygen content of affected individu al's blood low, sickle-cell hemoglobin molecules form into long rods that deform red cells into a sickle shape; may clump and clog sm all blood vessels, leading to physical weakness, pain, org an daage, paralysis -need two sickle-cell alleles for full blown sic kle-cell disease, but one sickle cell allele can affect phenotype -heterozygotes(carriers), having the sickle-cell trait are usually healthy but exhibit symptoms Dominantly Inherited Disorders -achondroplasia:form of dwarfish that occurs in 1/25,000 people; due to dominant alleles Huntington's Disease -degenerative disease of nervous system, caused by a lethal dominant allele, no obvious phenotype effect til 35-45 yrs old -test developed in 1993 to detect presence of Hu ntington's allele Multifactorial Disorders -heart disease, diabetes, cancer, alcoholism,schizophren ia, bipolar disorder multifactorial Genetic Testing and Couseling Tests for Identifying Carriers -to find out genetic risk for particular disease find out whether prospective parents are hetrozygous carriers of recessive alle le -Genetic Information Nondiscrimination Act(2008) prohibits discrimination in employment or insurance coverage based on genetic test results Fetal Testing -amniocentesis:test to determine fetus has disea se -chorionic villus campling(CVS): physician inser ts narrow tube through cervix into uterus and suctions out tiny sample of tissue from placenta; advantage over amniocentesis b/c cells forming r apidly enough to allow karyotyping to be carried out immediately Newborn Screening -biochemical tests, routinely performed in most hospitals -PKU(phenylketonuria); recessively inherited dis order in which children cannot metabolize amino acid phenylalanine properly, cou ld accumulate to toxic levels in blood and retardat ion -Mendel's discoveries overlooked by most biologi sts until early 20th century