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