Prevalence of Hemochromatosis Gene (HFE) Mutations in Greece
Prevalence of Hemochromatosis Gene (HFE) Mutations in Greece
复制标题
希腊血色病基因 (HFE) 突变的患病率
DOI：
10.1159/000069289
复制
发表时间：
2003
影响因子：
2.4
通讯作者：
E. Maltezos
中科院分区：
文献类型：
--
作者：
D. Papazoglou;T. Exiara;M. Speletas;I. Panagopoulos;E. Maltezos
遗传性血色病基因（HFE）突变C282Y和H63D的频率在不同人群之间存在差异。关于东南欧人群中这些突变频率的报道数量有限。对264名希腊裔成年人进行了C282Y和H63D突变检查，以确定等位基因和基因型频率。从外周血白细胞中提取的DNA样品的HFE基因区域通过聚合酶链反应扩增。使用RsaI对C282 Y和MboI对H63 D进行限制性酶切分析。264名个体中没有一人携带突变C282Y。43例（16.2%）为H63D等位基因杂合子携带者，2例为该突变纯合子（0.75%）。因此，总体H63D等位基因患病率估计为8.9%。HFE突变频率在研究人群中较低，这可能部分解释了希腊遗传性血色病临床病例相对罕见的原因。
The frequencies of the hereditary hemochromatosis gene (HFE) mutations C282Y and H63D vary between different populations. There are a limited number of reports regarding the frequency of these mutations in populations of southeastern Europe. Two hundred and sixty-four adult individuals of Greek origin were examined for the C282Y and H63D mutations to determine the allele and genotype frequencies. The HFE gene region of DNA samples extracted from peripheral leukocytes was amplified by the polymerase chain reaction. Restriction enzyme analysis was performed using RsaI for C282Y and MboI for H63D. None of the 264 individuals carried the mutation C282Y. Forty-three individuals (16.2%) were heterozygous carriers of the H63D allele and 2 were homozygous for this mutation (0.75%). The overall H63D allele prevalence is thus estimated at 8.9%. HFE mutation frequencies were low in the population studied and this may explain, in part, the relative rarity of clinical cases of hereditary hemochromatosis in Greece.
常见的内含子 3 突变 (IVS3 -48c-->g) 会导致 c.845G-->A (C282Y) HFE 基因突变的误诊。
DOI：
10.1006/bcmd.2000.0300
发表时间：
2000
期刊：
Blood cells, molecules & diseases
影响因子：
--
作者：
Beutler,E;Gelbart,T
通讯作者：
Gelbart,T