Analysis of the DNA sequence variation of the fucosyltransferase genes

克隆FUT2基因后，对FUT2基因的分子分析表明FUT2等位基因的异质性和无效等位基因在不同人群中的种族特异性。无义突变G428A（se428）是非洲人和欧洲人中主要的非分泌等位基因，而错义突变A385T（se357，385）是东亚人群中常见的Se酶缺陷等位基因。除了报告的FUT2中具有错义突变、无义突变或小缺失的罕见等位基因外，日本个体中的融合基因（sefus）和具有孟买表型的印度个体中的FUT2编码区的完全缺失（sedel）被鉴定为无效等位基因。我们分析了萨摩亚和孟加拉国人群中的FUT2基因，我们发现了两个不同的FUT2介导的大缺失，都丢失了FUT2基因的完整编码区。其中一个在孟加拉人群体中发现是sedel，另一个在萨摩亚人群体中发现是一种新的缺失型等位基因。 ...更多信息 FUT2的le（sedel2）。在萨摩亚人群中发现3个失活等位基因se357、385、se357、571和sedel 2，其频率分别为0.396、0.167和0.104。在孟加拉国人群中有se302、se357、385、se428和sedel四个失活等位基因，其频率分别为0.191、0.074、0.234和0.074。se428等位基因在非洲、欧洲和伊朗人群中是一个主要的无功能等位基因，频率约为50%，在这些人群中未发现se357，385等位基因。另一方面，se357，385的频率约为50%，是东亚人群中的主要无效等位基因，虽然se428是作为一个罕见的无效等位基因存在。孟加拉国人群中se428（0.234）和se357，385（0.074）的存在表明孟加拉国的雅利安人和亚洲人的混合物。C302T突变（se302）首先在泰国人群中发现，其频率（0.014）远低于孟加拉国人群（0.188）。因此，这种突变可能在某些南亚人群中产生。少

After cloning the FUT2 gene, molecular analyses of FUT2 have indicated the heterogeneity of FUT2 alleles and the ethnic specificity of null alleles in various populations. A nonsense mutation G428A (se428) is a predominant nonsecretor allele in Africans and Europeans, whereas a missense mutation A385T (se357,385) is included in a common Se enzyme-deficient allele in East Asian populations. In addition to rare alleles having missense mutations, nonsense mutations or small deletions in the FUT2 reported, a fusion gene (sefus) in Japanese individuals and a complete deletion (sedel) of the coding region of FUT2 in Indian individuals with the Bombay phenotype were identified as null alleles. We analyzed the FUT2 gene in Samoan and Bangladeshi populations, and we found two distinct Alu-mediated large deletions of the FUT2, both lost the full coding region of the FUT2 gene. One of them found in Bangladeshi population was sedel and the other found in Samoan population was a novel deletion alle … More le of the FUT2 (sedel2). Three inactivating alleles, se357,385, se357,571 and sedel2, were encountered in the Samoan population and their frequencies were 0.396, 0.167 and 0.104, respectively. There were four inactivating alleles, se302, se357,385, se428 and sedel, in the Bangladeshi population and their frequencies were 0.191, 0.074, 0.234 and 0.074, respectively. The se428 allele with frequency of about 50% is a predominant nonfunctional allele in African, European and Iranian populations and no se357,385 allele is found in these populations. On the other hand, the se357,385 with frequency of about 50% is a predominant null allele in East Asian populations, although the se428 is present as a rare null allele. The presence of both se428 (0.234) and se357,385 (0.074) in a Bangladeshi population (Table 1) suggests the admixture of Aryans and Asians in Bangladesh. The C302T mutation (se302) was first identified in a Thai population, its frequency in this population (0.014) was much lower than that in the Bangladeshi population (0.188). Therefore, this mutation might be generated in certain South Asian populations. Less