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Ch 6 Pedigree Analysis and Applications. Outline. Methods used to study human genetics Methods used for genetic testing. Methods to study human genetics. Pedigrees Twin Studies Adoption Studies. Pedigree. Pictorial representation of family history Uses symbols to provide information
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Outline • Methods used to study human genetics • Methods used for genetic testing
Methods to study human genetics • Pedigrees • Twin Studies • Adoption Studies
Pedigree • Pictorial representation of family history • Uses symbols to provide information • Must know the meaning of the symbols • Pedigrees can tell us: THE PATTERN OF INHERITANCE
A. EXAMPLES: PATTERNS OF INHERITANCE & PEDIGREES Amyotrophic lateral sclerosis ALS
B. EXAMPLES: PATTERNS OF INHERITANCE & PEDIGREES Hypophosphatemia
TWIN STUDIES • Monodizygotic • Dizygotic
Genetics vs Environment • Concordance
Genetic Testing Chorionic villus aminocentesis
Genetic Testing • New born Testing • Testing for carriers (heterozygotes) • Screening before symptoms occur.