Human Heredity and Development_Walsh_Date_041510

Human Heredity and Development_Walsh_Date_041510 - Pedigree...

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Pedigree Analysis Incomplete penetrance o Individuals with the genotype for the trait have no detectable phenotypic expression. Example- polydactyly (autosomal dominant) o Penetrance of a gene Percentage of individuals who have genotype and express it <100% = incomplete penetrance o Camptodactyly chart shows incomplete penetrance and variable expressivity DNA Chapter 8 What is a gene? o Protein o Carbohydrate o Nucleic Acid o Lipid Francis Crick and genetic material A History of DNA o Friedrich Miescher, ~1871 Studied pus cells’ nuclei Discovered nitrogen and phosphorous rich material – nucleic acid o Early 1900 Chromosomes carry genes Archibald Garrod, 1902 – inborn error of metabolism (genetic mutation associated with enzymes) Alkaptomuria – urine turned black Discovery of a “Transforming factor” o Frederick Griffith, 1920s Streptococcus pneumonia infect mice Develop pneumonia and die Two types of bacteria
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