Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal
作者:Carla S Cardoso、Pedro Oliveira、Graça Porto、Christian Oberkanins、Mónica Mascarenhas、Pedro Rodrigues、Fritz Kury、Maria de Sousa
DOI:10.1038/sj.ejhg.5200723
日期:2001.11
An earlier study of reference values of iron parameters in Portugal showed significant differences between populations from northern and southern villages. This study addresses the question of the geographical distribution in Portugal of the two main mutations (C282Y and H63D) of the hereditary hemochromatosis gene, HFE. For that purpose, a stratified sample of 640 anonymous dried blood spot samples was randomly selected from the major regions of Portugal: North, Center, Lisbon and the Tagus Valley, Alentejo and Algarve. Differences in the geographical distribution of these two mutations were observed thus confirming the presumed differences between the age of the two mutations which is compatible with the postulated Celtic/Nordic origin of the C282Y mutation. The finding of a significantly higher allelic frequency of the C282Y mutation in the North (0.058) than in the South (0.009) could also point to an effect of differential selective forces acting in the different geographical areas of the country. Data on archaeological, ethnographic and linguistic records and on the North/South distribution of Portuguese cattle breeds of European or African origin have also been reported. In addition to their interest for population genetics, the results represent a reminder of the need to take into account regional differences in the design of strategies for population screening of hereditary hemochromatosis.
一项早期关于葡萄牙铁参数参考值的研究显示北部和南部村庄之间存在显著差异。本研究探讨了葡萄牙遗传性血色病基因HFE的两种主要突变(C282Y和H63D)的地理分布问题。为此,从葡萄牙主要地区(北部、中部、里斯本和塔古斯河谷、阿连特茹和 Algarve)随机选取了640个匿名干血点样本的分层样本。观察到这两种突变的地理分布存在差异,从而证实了这两种突变年龄的假定差异,这与假设的凯尔特/斯堪的纳维亚C282Y突变起源相符。在北部(0.058)C282Y突变的等位基因频率显著高于南部(0.009),这也可能指向不同地理区域中作用的选择性力量的差异。此外,还有关于考古、 ethnographic 和语言记录的数据,以及葡萄牙牛种的北南分布(无论是欧洲或非洲起源)的报道。除了对种群遗传学的兴趣,这些结果还提醒我们在设计遗传性血色病人群筛查策略时,需要考虑区域差异。