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Sequencing Our Genome: Background Bio 101 How can a black female dog have yellow, brown, and black puppies? A Simple Cross: Mendel’s Peas Mendel’s explanation for the flow of genes in matings Mendel’s experimental test Two genes… What would a test cross for two genes look like? What would a test cross for two genes look like? YyRr x yyrr | YR Yr yR yr ------|-------------------------------------yr | YyRy Yyrr yyRr yyrr yr | YyRy Yyrr yyRr yyrr yr | YyRy Yyrr yyRr yyrr yr | YyRy Yyrr yyRr yyrr 4 1 : : 4 1 : : 4 1 : 4, : 1 OR Two genes are needed for a black female dog to have three colors of puppies Pedigrees trace genes in families A vertical pattern of inheritance indicates a rare dominant trait. Huntington’s disease: A rare dominant trait (“vertical pattern”) Assign the genotypes by working backward through the pedigree 1. All affected individuals have an affected parent. 2. About ½ of all children from an affected parent are affected. A horizontal pattern of inheritance indicates a rare recessive trait. Cystic fibrosis: a recessive condition (“horizontal pattern”) 1. Unaffected parents can produce affected children. 2. About ¼ of children are affected in families with the trait. 3. “Consanguinous” marriages may be involved. 4. Heterozygotes are called “carriers.” 5. All of the©children of affected individuals must carry Copyright The McGraw-Hill Companies, 2-12(or express) the trait. Fig.2.22Inc. Permission required to reproduce or CQ#1: What is this pedigree telling us? personal genetics education project Deciphering a Pedigree Example: A family where a trait appears in 2 out of 3 children Dad Son (unaffected) Mom Twin son (affected) Twin daughter (affected) personal genetics education project Short applications A family has one child with cystic fibrosis. What is the probability that the next child will also have it? Be a carrier? If a man with sickle-cell disease (recessive) marries a normal woman, what is the probability that their first child will have the disease? BRCA1 mutations are associated with increased cancer rates on both men and women. What is the probability that the first child of a woman with a BRCA1 mutation (dominant) will have an increased probability of cancer? CQ#2 – What Can We Learn From This Pedigree? Maria Steven age 60 breast cancer Vanessa Emily Angela Malcolm XX Chris Ashley personal genetics education project What if we cannot SEE differences in DNA? Coat color, pea color, Huntington’s disease, sickle cell anemia, and cystic fibrosis can be tracked in famiies because the genes create visible changes. BRCA-1 and most other genes either: Do not create a visible genotype, or The genotype appears too late to be useful for diagnosis or treatment. HOW CAN WE TRACE IMPORTANT GENES IF WE CANNOT SEE THEM? CQ#2 – What We Learn From Genetic Screening Maria Steven age 60 breast cancer Vanessa Emily Angela Malcolm XX Chris Ashley Ages 22-37 personal genetics education project