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11/17/2016 1 PEDIGREE CHARTS A family history of a genetic condition 2 What is a pedigree chart? Can be used to study the transmission of a hereditary condition 3 Symbols used in pedigree charts Normal male Affected male Normal female Affected female Marriage 4 Organising the pedigree chart A pedigree chart of a family showing 20 individuals 5 Organising the pedigree chart Generations are identified by Roman numerals 6 Organising the pedigree chart Individuals in each generation are numbered from the left 7 Interpreting a Pedigree What can you tell from a pedigree? Whether a family has an autosomal or sex-linked disease or disorder • Autosomal disorder: appears in both sexes equally • Sex-linked disorder: allele is located only on the X or Y chromosome. Most sex-linked genes are on the X chromosome and are recessive • So who would have an X-linked disorder more often, boys or girls? Whether a disorder is dominant or recessive 8 Is this disorder 1) autosomal or sex linked, 2) dominant or recessive? 9 Is this disorder 1) autosomal or sex linked, 2) dominant or recessive? 10 Is this disorder 1) autosomal or sex linked, 2) dominant or recessive? 11 Common Genetic Disorders Color blindness Sickle cell anemia Cystic Fibrosis Hemophilia Huntington’s Disease 12 Color Blindness 13 What are blood types? 14 15 Antibodies 16 17 18 Rh Factors • Scientists sometimes study Rhesus monkeys to learn more about the human 1 11/17/2016 14 15 Antibodies 16 17 18 Rh Factors • Scientists sometimes study Rhesus monkeys to learn more about the human anatomy because there are certain similarities between the two species. While studying Rhesus monkeys, a certain blood protein was discovered. This protein is also present in the blood of some people. Other people, however, do not have the protein. • The presence of the protein, or lack of it, is referred to as the Rh (for Rhesus) factor. • If your blood does contain the protein, your blood is said to be Rh positive (Rh+). If your blood does not contain the protein, your blood is said to be Rh negative (Rh-). • 2