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C12- Mendelian Inheritance Of Human Traits Chp 12- pp. 308- 335 Contents • 12-1 Mendelian Inheritance • 12-2 Complex Inheritance • 12-3 Complex Inheritance of Human Traits C12-Mendelian Inheritance of Human Traits • Making a Pedigree • Symbols identify sex, genotype and relationship between parents, siblings & spouses. • Half-shaded Carrier • Horizontal row generation • Practice on p. 310. Analyzing a Pedigree • Determine likelihood of being a carrier. • Probability for offspring being affected. Simple Recessive Heredity • Most genetic diseases are caused by recessive alleles: • Cystic fibrosis • Tay Sachs • Phenylketonuria Simple Dominant Heredity • • • • Cleft Chin Widow’s Peak Hanging Earlobes Hitchhiker’s Thumb • Almond Eyes • Thick Lips • Digital Hair Simple Dominant Heredity • Huntington’s Disease • Lethal genetic disorder • Onset between 30 to 50 12-2 When Heredity Follows Different Rules • Complex Inheritance – Incomplete Dominance – Codominance – Multiple Alleles – Sex Determination – Sex-linked – Polygenic Inheritance Complex Inheritance • Incomplete dominance • Appearance of a third phenotype blending the first two Complex Inheritance • Codominance • Both alleles expressed equally in heterozygotes • Use uppercase for both • Ex. Checkered chickens Complex Inheritance • Multiple Alleles • Traits controlled by more than 2 alleles • Ex. Feather color in pigeons Complex Inheritance • Sex Determination • 23rd pair of chromosomes • Female 2 X s • Male X Y Complex Inheritance • Sex-Linked Traits controlled by genes on sex chromosomes • Thomas Hunt Morgan (1910) discovered rules governing SLT by studying fruit flies eye color. • Females red eye males ½ red ½ white Complex Inheritance • Polygenic Inheritance • Skin color & height controlled by many genes • Heterozygotes intermediate phenotype Environmental Influences • Can determine how or whether gene is expressed: • Internal Environment – Hormones, structural differences, age • External – Temperature, nutrition, light, chemicals, infectious agents. 12-3 Complex Inheritance of Human Traits • Codominance – Sickle-cell anemia – Differs from normal hemoglobin by one amino acid – Moon-shaped cells block blood flow causing tissue damage and pain. Multiple Alleles • Blood Type- A, B, AB or O types determined by presence or absence of molecules • Gene has 3 alleles IA, IB, I • Incompatible blood causes clumping Sex-linked Traits in Humans • Red-green colorblindness • Hemophilia-blood clotting disorder Sex-linked Traits in Humans • ♀ Carrier X ♂ C • 50% offspring CB in this example • Responsible gene on X Polygenic Inheritance • Eye Color • Skin Color • 3 or more genes involved Changes in Chromosome Number • Abnormal number autosomes • Trisomy usually results from nondisjunction. • Metaphase chromosomes are photographed & charted into a Karyotype. Changes in Chromosome Number • Down’s SyndromeTrisomy 21 • Only autosomal trisomy that survives to adulthood. • Occurs 1 in 700 live births • Some degree of mental retardation Changes in Chromosome Number • • • • • • • Abnormal number of Sex chromosomes XO female Turner Syndrome XXX female XXY male Klinefelter Syndrome XYY male Infertility Some mental retardation possible