Hereditary haemochromatosis mutation frequencies in the general population
Hereditary haemochromatosis mutation frequencies in the general population
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DOI：
10.1136/jms.5.1.34
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发表时间：
1998-01-01
影响因子：
2.9
通讯作者：
Ferrie, RM
中科院分区：
文献类型：
--
作者：
Bradley, LA;Johnson, DD;Ferrie, RM
目的-本研究旨在扩大我们对遗传性血色病候选基因中两种突变（C282 Y和H63 D）的一般人群频率的了解，并确定是否可以使用常规获得的颊刷（颊）样本进行检测。从一组在缅因州进行产前囊性纤维化筛查的夫妇中，对口腔细胞裂解物进行多重ARMS检测，以确定两种突变。其中C282 Y纯合子7例，C282 Y/H63 D复合杂合子22例，C282 Y杂合子97例，H63 D纯合子17例，H63 D杂合子246例，未检出突变者612例。C282 Y和H63 D的等位基因频率分别为0.066和0.151，foreign.Conclusions-Observed基因型频率在缅因州是一致的预期和共识数据从五个较小的研究。合并突变分析数据表明，C282 Y（约85%的诊断为遗传性血色病的受试者中发现的基因型）的纯合性发生在51/10 000白色受试者的北方欧洲遗产;相应的总遗传性血色病患病率约为60/10 000与以前的估计是一致的。该研究还证实，H63 D在一般人群遗传性血色病筛查中没有用处。
Objectives-This study aims to expand our knowledge of the general population frequency of two mutations, C282Y and H63D, identified in the candidate gene for hereditary haemochromatosis, and to determine whether the testing can be performed using routinely obtained cheek-brush (buccal) samples.Setting-Banked buccal lysate samples, randomised and coded for anonymity, from a cohort of couples who underwent prenatal cystic fibrosis screening in Maine.Methods-A multiplex ARMS test was performed on buccal cell lysates to identify the two mutations.Results-Genotype frequencies found among the 1001 subjects studied (502 women, 499 men) were: seven C282Y homozygotes, 22 C282Y/H63D compound heterozygotes, 97 C282Y heterozygotes, 17 H63D homozygotes, 246 H63D heterozygotes, and 612 individuals with no detectable mutation. The allele frequencies for C282Y and H63D were 0.066 and 0.151, respectively.Conclusions-Observed genotype frequencies in Maine are consistent with expectations and with consensus data from five smaller studies. Combined mutational analysis data indicate that homozygosity for C282Y (the genotype found in about 85% of subjects with diagnosed hereditary haemochromatosis) occurs in 51 per 10 000 white subjects of northern European heritage; the corresponding total hereditary haemochromatosis prevalence of about 60 per 10 000 is consistent with previous estimates. The study also confirms that H63D would not be useful in general population screening for hereditary haemochromatosis.