The fusion allele of the FUT2 (secretor type α(1,2)-fucosyltransferase) gene at a high frequency and a new se385 allele in a Korean population
The fusion allele of the FUT2 (secretor type α(1,2)-fucosyltransferase) gene at a high frequency and a new se385 allele in a Korean population
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DOI：
10.1007/s00277-005-1041-5
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发表时间：
2005-10-01
影响因子：
3.5
通讯作者：
Kim, JQ
中科院分区：
文献类型：
--
作者：
Park, KU;Song, J;Kim, JQ
融合基因（se（fus））是FUT 2 [分泌型α（1，2）-岩藻糖基转移酶]基因的非功能性等位基因，在日本人群中发现频率较高（4.8-7.9%）。在一项对朝鲜族人群的研究中，发现se（fus）的频率非常低（0.6%），但尚未在任何其他种族人群中发现。本研究的目的是调查FUT 2基因多态性在韩国人口，并评估其在唾液分泌表达的影响。我们调查了频率的FUT 2等位基因在韩国人口通过聚合酶链反应，面对两对引物（PCR-CTPP）和限制性片段长度多态性（PCR-RFLP）。从盆唐韩国人的348名随机献血者中收集血液样本。在总共检测的696个等位基因中，韩国人群中se（fus）等位基因的频率为10.8%。此外，在约7.2%的受试者中发现了新的se（385）等位基因，与迄今为止调查的任何其他人群相比，这是一个异常频繁的发生。FUT 2基因的无效等位基因是在不同地理区域或人群中以出乎意料的高频率出现的罕见等位基因的另一个例子。
The fusion gene (se(fus)), a nonfunctional allele of the FUT2 [secretor type alpha(1,2)-fucosyltransferase] gene, was found in Japanese populations with high frequencies (4.8-7.9%). In a study on a Korean population, se(fus) was found at a very low frequency (0.6%), but it has not yet been revealed in any other ethnic population. The aim of the present study was to investigate FUT2 gene polymorphisms in a Korean population and to evaluate their implications in secretor expression in saliva. We investigated the frequency of the FUT2 alleles in a Korean population via polymerase chain reaction with confronting two-pair primers (PCR-CTPP) and restriction fragment length polymorphism (PCR-RFLP). Blood samples were collected from 348 random donors in Bundang Koreans. From a total of 696 alleles examined, the frequency of the se(fus) allele in the Korean population was 10.8%. In addition, the new se(385) allele was found in about 7.2% of the subjects, an unusually frequent occurrence compared to any other population investigated so far. The null alleles of the FUT2 gene are another example of rare alleles occurring with unexpectedly high frequencies in distinct geographic regions or populations.