Genetic variation of FUT2 in a Vietnamese population: Identification of two novel Se enzyme - Inactivating mutations
Genetic variation of FUT2 in a Vietnamese population: Identification of two novel Se enzyme - Inactivating mutations
复制标题
越南人群中 FUT2 的遗传变异：两种新型 Se 酶的鉴定 - 失活突变
DOI：
10.1111/j.1537-2995.2011.03485.x
复制
发表时间：
2012
期刊：
影响因子：
2.9
通讯作者：
M.
中科院分区：
文献类型：
--
作者：
Soejima;M.
背景：人类FUT2基因编码一种分泌型α（1，2）岩藻糖基转移酶，编码区存在多种人群特异性多态性，研究设计和方法：采用直接测序、真实的时间聚合酶链反应和高分辨率熔解（HRM）分析方法检测越南人群中的单核苷酸多态性（SNPs）和拷贝数变异（CNVs）。两个新的突变对编码的酶的影响进行了检查的瞬时expression study.RESULTS：在294名越南人的主要非功能性等位基因是se357，385，而没有CNV被检测到。结果表明，越南人FUT2基因的等位基因多态性与其他东亚和东南亚人群相似，其中818C> A（Thr273Asn）和853G> A（Ala285Thr）是影响FUT2酶活性的两个新的SNP位点。这一结果可能反映了该群体的历史和基因流动。此外，HRM分析似乎是在大量样本中筛选FUT2罕见SNP的简单有效的方法。[2011年12月21日在线发表后添加的更正声明：Thr273Ala已全部更新为Thr273Asn。]
BACKGROUND:The human FUT2 gene encodes a secretor‐type α(1,2)fucosyltransferase, and many population‐specific polymorphisms have been reported in the coding region.STUDY DESIGN AND METHODS:Direct sequencing, real‐time polymerase chain reaction, and high‐resolution melt (HRM) analysis were done to detect single‐nucleotide polymorphism (SNPs) and copy number variations (CNVs) in a Vietnamese population. The impacts of two novel mutations on the encoded enzyme were examined by a transient expression study.RESULTS:The major nonfunctional allele in the 294 Vietnamese was se357,385, whereas no CNV was detected. Two novel SNPs, 818C>A (Thr273Asn) and 853G>A (Ala285Thr), distributed at low frequency, were shown to remarkably affect the enzyme activity.CONCLUSION:The allelic polymorphism of FUT2 in Vietnamese is similar to that of other East and Southeast Asian populations. This result may reflect the history and gene flow of this population. In addition, HRM analysis seems to be a simple and effective method for screening rare SNPs of FUT2 in a large number of samples.[Correction statement added after online publication 21‐Dec‐2011: Thr273Ala has been updated to Thr273Asn throughout.]