Mutation Analysis in Hereditary Hemochromatosis

摘要: The DNA of 147 patients European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations the HLA-H gene at nt 845 187. One hundred twenty-one (82.3%) were homozygous 10 (6.8%) heterozygous 845A (C282Y) mutation. All also 187C, all heterozygotes had least one copy 187C. Thus, 187 in complete linkage disequilibrium; a C on chromosomes Eight 187G(H63D). excess both suggested either presence as yet undiscovered existing trans disequilibrium 187G, or that 187G itself is deleterious mutation, which concert can give rise to hemochromatosis. None normal 29/193 (15%) 845A. Although 47/193 (24.3%) mutation only two these carried If complemented high penetrance causing hemochromatosis, then population frequency genes would require proportion be 187G. Instead, homozygotes much higher than 845A/187G genotype. Based our data, genotype 1.5% based data Feder et al. 0.5%. In contrast, 845A/845A seems very high. screening this should useful.