Frequencies of C282Y and H63D mutations and transferrin saturation indices in the Korean population.
作者： Soo Jin Choi , Won-Ki Min , Sail Chun , Hyosoon Park , Jong Won Kim
关键词: Hemochromatosis 、 Genotype 、 Genetics 、 Transferrin saturation 、 Restriction fragment length polymorphism 、 Internal medicine 、 Endocrinology 、 Allele frequency 、 Biology 、 Hereditary hemochromatosis 、 Transferrin 、 Point mutation
摘要: Hereditary hemochromatosis (HHC) is an autosomal recessive disorder that damages various organs because of the deposition excess iron. At human (HFE) gene, two mutations C282Y and H63D have been reported. The frequencies vary among ethnic groups. present, most suitable screening test for HHC assessment transferrin saturation (TS). We investigated distribution TS Koreans. was measured in 2152 subjects who visited health promotion center a checkup. mean (+/-SD) 41.7+/-15.4%. randomly selected 240 tested them using PCR-restriction fragment length polymorphism (RFLP). All samples were found to be G/G homozygous non-mutated C282Y. Of subjects, 18 (7.5%) C/G heterozygous 222 C/C H63D. In this study, mutation not Korean population, showed allele frequency 3.8%. study higher than Caucasians.
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