Variations of the CFTR gene in the Hanoi-Vietnamese
Variations of the CFTR gene in the Hanoi-Vietnamese
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DOI：
10.1002/ajmg.a.30826
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发表时间：
2005-07-30
影响因子：
2
通讯作者：
Keicho, N
中科院分区：
文献类型：
--
作者：
Nam, MH;Hijikata, M;Keicho, N
为了调查囊性纤维化跨膜传导调节基因（CFTR）在越南的多态性背景，我们分析了495例随机选择的健康个体在河内的Δ F508突变和TG-重复，多聚T和M470 V多态性的血液样本。我们将其分布与高加索人和其他亚洲人群进行了比较。未发现Δ F508突变，这与越南囊性纤维化（CF）的极低发病率一致。T5等位基因促进外显子9跳跃的等位基因频率为0.037。更多的TG-重复，这是已知的，以促进这种异常剪接，是一个主要的趋势，在越南和其他亚洲人。T5单倍型中以“T5-TG 12-V470”单倍型最常见（29/37）。PHASE程序估计的三种主要单倍型T7-TG 12-M470、T7-TG 11-V470和T7-TG 12-V470与92%的人群相关。这是首次在越南人中对CFTR基因进行研究。(c)2005 Wiley-Liss，Inc.
In order to investigate polymorphic backgrounds of the cystic fibrosis transmembrane conductance regulator gene (CFTR) in the Vietnamese, we analyzed 495 blood samples of randomly selected healthy individuals in Hanoi for the delta F508 mutation and TG-repeats, poly-T, and M470V polymorphisms. We compared their distributions with those of Caucasians and other Asian populations. No delta F508 mutation was found, being consistent with the extremely low incidence of cystic fibrosis (CF) in Vietnam. Allele frequency of the T5 allele promoting exon 9 skipping was 0.037. Greater number of TG-repeats, which is known to facilitate this aberrant splicing, was a predominant trend in the Vietnamese and other Asians. A "T5-TG12-V470" haplotype was most common (29/37) among T5-bearing haplotypes. Three major haplotypes, T7-TG12-M470, T7-TG11-V470, and T7-TG12-V470, estimated by PHASE program, related to 92% of the population. This is the first study of the CFTR gene among the Vietnamese. (c) 2005 Wiley-Liss, Inc.