Lucotte G
Laboratory of Molecular Neurogenetics, European Laboratory of Screening, 1 place d'Iéna, Paris 15ème, France.
Blood Cells Mol Dis. 1998 Dec;24(4):433-8. doi: 10.1006/bcmd.1998.0212.
The C282Y mutation in the HFE gene is the main mutation causing hemochromatosis, and C282Y frequencies have been reported for various European populations. The aim of this review is to compile the Y allele frequencies of the C282Y mutation for twenty European populations. The most elevated value (6.88%) is observed in residual Celtic populations in UK and France, in accordance to the hypothesis of Simon et al. concerning a Celtic origin of the hereditary hemochromatosis mutation.
HFE基因中的C282Y突变是导致血色素沉着症的主要突变，并且已经报道了不同欧洲人群的C282Y频率。本综述的目的是汇总20个欧洲人群中C282Y突变的Y等位基因频率。根据Simon等人关于遗传性血色素沉着症突变起源于凯尔特人的假设，在英国和法国的凯尔特残余人群中观察到最高值（6.88%）。
