Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume 830-0011, Japan.
Clin Chim Acta. 2013 Jan 16;415:59-62. doi: 10.1016/j.cca.2012.08.020. Epub 2012 Aug 29.
Two hybrid alleles between the secretor type α(1,2)fucosyltransferase gene (FUT2) and a pseudogene of FUT2 (SEC1) have been reported so far; parts of the SEC1 and FUT2 sequences are suggested to be susceptible to recombination. The se(fus), one of the two hybrid alleles, is found in Japanese populations at relative high frequencies.
A TaqMan assay to distinguish SEC1 and SEC1-FUT2 hybrid alleles was designed for the purpose of dealing with large number of samples.
The results of the present method were fully consistent with those of the previous method for detection of se(fus) in the Japanese population. In addition, a novel SEC1-FUT2-SEC1 hybrid allele, which contains a 35-bp sequence (between positions 418 and 452) that is identical to the FUT2 sequence including a 13-bp FUT2-specific region (between positions 436 and 448), was encountered in an individual of European descent.
The present TaqMan assay is a reliable and powerful method for the large scale association study between disease susceptibility and FUT2 genotypes especially in the Japanese populations because of relative high frequency of se(fus). In addition, this method is a useful tool to find novel SEC1-FUT2 hybrid alleles.
到目前为止,已经报道了在分泌型α(1,2)岩藻糖基转移酶基因(FUT2)和 FUT2 假基因(SEC1)之间存在两种杂交等位基因;部分 SEC1 和 FUT2 序列易发生重组。其中一种杂交等位基因 se(fus)在日本人群中相对高频出现。
设计了 TaqMan 检测方法,用于区分 SEC1 和 SEC1-FUT2 杂交等位基因,以便处理大量的样本。
本方法的结果与以前的用于检测日本人种 se(fus)的方法完全一致。此外,在一个欧洲血统的个体中还发现了一种新的 SEC1-FUT2-SEC1 杂交等位基因,其包含一个 35-bp 的序列(位于第 418 位和第 452 位之间),与包括 13-bp FUT2 特异性区域(位于第 436 位和第 448 位之间)的 FUT2 序列完全相同。
本 TaqMan 检测方法是一种可靠且强大的方法,可用于特别是在日本人群中进行疾病易感性与 FUT2 基因型之间的大规模关联研究,因为 se(fus)的相对高频出现。此外,该方法是发现新型 SEC1-FUT2 杂交等位基因的有用工具。