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