HFE基因突变在我国成年男性人群的分布

THE DISTRIBUTION OF HFE GENE MUTATION IN CHINESE ADULT MEN

目的:了解遗传性血色素沉积症(HFE)基因突变在铁过量人群和铁营养状况正常人群的分布,探讨HFE基因突变对我国成年男性铁过量状况的影响。方法:从2002年中国居民营养与健康状况调查采集的静脉血液样本中随机抽取226名铁营养状况正常的成年男性作为正常对照组,331名铁过量的成年男性作为铁过量组,比较两组人群HFE基因C282Y突变、H63D突变和S65C突变的分布。结果:在铁过量组,正常基因型占90.03%,H63D突变纯合子占0.60%,H63D突变杂合子占9.07%,S65C突变杂合子占0.30%,未检测到C282Y突变杂合和纯合基因型。在正常对照组,正常基因型占94.25%,H63D突变杂合子占5.75%,未检测到S65C突变和C282Y突变。结论:HFE基因突变不是造成我国成年男性铁过量的主要原因。

Objective：To analyze the distribution of HFE gene （hemochromatosis gene） mutation in normal and iron overload men and discuss the influence of HFE gene mutation on iron overload status of Chinese adult men..Method：The data of 226 normal and 331 iron overload men were drawn from National Nutrition and Health Survey in 2002 as control and case group respectively to analyze and compare the distribution of HFE mutation including C282Y mutation, H63D mutation and S65C mutation in normal and iron overload men.Results：In case group, normal gene was 90.03%, homozygosity for H63D mutation 0.6%, heterozygosity for H63D mutation 9.07%, heterozygosity for S65C 0.3%. In control group normal gene was 94.25%, heterozygosity for H63D 5.75%, and no S65C and C282Y mutation was detected. Conclusion： HFE gene mutation was not the major reason resulting in iron overload in Chinese adult men.