中国河南汉族人HFE C282Y基因突变频率调查

Frequency of the C282Y mutation of the hemochromatosis gene （HFE） in the Henan population with the Han nationality in China

目的调查中国河南汉族人遗传性血色素沉着症HFE C282Y基因突变情况。方法利用聚合酶链反应和限制性片段长度多态性分析方法,检测518例健康献血的河南汉族人血液标本。结果C282Y突变未见。结论中国河南汉族人HFE C282Y等位基因突变频率与美国密歇根州高加索人差异具有统计学意义。

Objective To investigate the prevalence of the C282Y mutation in the HFE gene associated with hereditary hemochromatosis（HH） in the Henan HaM population in China. Methods Polymerase chain reaction （PCR） and restriction enzyme digestion were performed to screen for C282Y mutations of the HFE on 518 blood samples from the healthy volunteer blood donors of Henan Province. Results Indicate that the C282Y mutation may be rare and absent in the Henan HaM population in China. Conclusion This is the first publication to examine HFE frequencies in the samples of the Henan HaM population in China. In this study, the C282Y mutation was not found. This result is different from that observed in the Caucasian population.