Matching Pairs Med Genetic 3Online version FOREIGN by Anthony Flish 1 Sex Reversal Syndrome 2 Hemophilia A or B is X-Linked recessive Disorder. Which lacks? 3 Duchenne Muscular Dystrophy lacks Dystrophin which interact with actin as well as dystroglycan-sarcoglycan. stablizes sarcolemma 4 X-linked Dominant Pedigree 5 carrier frequency 6 Autosomal Recessiv Inheritance 7 X-linked Recessive 8 X-Linked Dominant inheritance 9 Y-linked 10 Leber's Hereditary Optic Neuropathy, cause blindess, mitochondrial disease 11 p2+2pq+q2 and p+q=1 12 Red-Green Color Blindess 13 Autosomal Codominant Inheritance 14 X-linked Recessive Pedigree 15 Autosomal Dominant inheritance Hardy Weinberg Equation -Tend to skip generation -affected offspring born to unaffected parents. -equal frequency between both sex. affect both sex. appear in every generation. (CAN CAUSE NEW AUTOSOMAL DOMINANT MUTATION) lacks clotting factor VIII or IX. loss of SRY gene, gonad dysgenesis. 2pq lack light absorbing protein "Opsin" No Father to Son transmission . Fragile X syndrome FMR1 protein. (CGG)-Arginine. Mutated gene for NADH Dehydrogenase. 2 alleles at locus produce 2 different phenotypes that appear in heterozygote (i.e. A,B,O blood group).. Emphysema (a1-antitrypsin) increase intracellular Ca2+, activation depend on protease. Kinase level in blood (20x). Clumsy. Becker Muscular Dystrophy is less severe.
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