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Chapter12:Patterns of Heredity and Human Genetics Section12.1 Mendelian Inheritance of Human Traits • Interpret a pedigree. • Identify human genetic disorders caused by inherited recessive alleles. • Predict how a human trait can be determined by a simple dominant allele. Making a Pedigree • Pedigree(系谱,P 309) – A graphic representation of genetic inheritance. – Track Genotypes by looking at their phenotypes – Genotype- allele combination for genes that express a trait (ex. AA, Aa, aa) – Phenotype- physical traits caused by a genotype( ex. AA= red flowers, aa= white flowers Carrier- person who can pass on a disease but it not effected by it Reading a Pedigree • Is this a dominate or recessive disease? • Which individuals MUST be carriers? • I-1,2; II-1,2; III-3,4 • What are the possible genotypes for III-1? • AA or Aa Recessive (aa) Aa Aa AA or Aa Aa Aa aa Aa Aa aa aa Reading a PedigreeAA • Is this a dominate or recessive disease? • Which individuals MUST be carriers? Aa aa Aa -None. Cannot have carries for a simple dominate disease • What are the possible genotypes for IV-1? -Aa Dominate (AA, Aa) aa Aa Aa aa Simple Recessive Heredity • Recessive traits can remain dormant and can appear suddenly; carriers • Tend to skip generations • Some recessive disease are fatal and have late onset Simple Recessive Heredity • Cystic fibrosis disease囊性纤维化 – 1/28 Americans are carriers – Thick mucus builds in the lungs – Makes physical activity difficult – Must be treated with medication Simple Recessive Heredity • Phenylketonuria (PKU) – Body lacks enzyme to change phenylalanine to tyrosine – Build up in the body leads to a damaged nervous system – Fetuses are tested to treat with diet Simple Dominant Heredity • Heredity of many physical characteristics – Widow’s peak hairline – Darwin earlobes – Hitchhiker’s thumb • Traits appear in every generation and is equally spread between males and females Section12.2/12.3 When Heredity Follows Different Rules • Distinguish between alleles for incomplete dominance and codominance. • Explain the patterns of multiple allelic and polygenic inheritance. • Analyze the pattern of sex-linked inheritance. • Summarize how internal and external environments affect gene expression. Complex Patterns of Inheritance • Incomplete dominance(不完全显性): Appearance of a third phenotype (P 315) – When traits are inherited in an incomplete dominance pattern, however, the phenotype of heterozygous individuals is intermediate between those of the two homozygotes. Complex Patterns of Inheritance • Codominance(共显性): Expression of both alleles(P 316) – Codominant alleles cause the phenotypes of both homozygotes to be produced in heterozygous individuals. – In codominance, both alleles are expressed equally. Complex Patterns of Inheritance • Multiple phenotypes from multiple alleles (多重等位基因造成多种表现型,P 317) – Traits controlled by more than two alleles have multiple alleles. Complex Patterns of Inheritance • Polygenic inheritance(多基因遗传,P 320) – Polygenic inheritance is the inheritance pattern of a trait that is controlled by two or more genes. – Alleles are not dominate or recessive; they represent degrees of expression – All heterozygotes are intermediate in phenotype. Complex Patterns of Inheritance • Sex determination (性别决定,P318): – chromosomes, which determine the sex of an individual, are called sex chromosomes (性染色体). – 22 other chromosomes are called autosomal chromosomes (常染色体)。 Complex Patterns of Inheritance • Sex-linked inheritance(伴性遗传,P 318) Complex Patterns of Inheritance • Sex-linked traits(伴性性状,P 319) – Traits controlled by genes located on sex chromosomes are called sex-linked traits. – Red-green color blindness – Hemophilia Complex Patterns of Inheritance • Environmental Factors: – Temperature, nutrition, light, etc… can effect the phenotype of an individual by changing the expression of the genes – Ex. Arctic Fox • Internal Factors: – Hormones regulate gene expression so a genotype may not express the same phenotype it different individuals – Ex. Peacocks