人类分泌型α1,2-岩藻糖基转移酶基因错义突变与Lewis(a+b+)表型的相关性：弱分泌等位基因（Sew）的潜在分子基础。
Correlation of a missense mutation in the human Secretor alpha 1,2-fucosyltransferase gene with the Lewis(a+b+) phenotype: a potential molecular basis for the weak Secretor allele (Sew).
作者信息
Yu L C, Yang Y H, Broadberry R E, Chen Y H, Chan Y S, Lin M
机构信息
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
出版信息
Biochem J. 1995 Dec 1;312 ( Pt 2)(Pt 2):329-32. doi: 10.1042/bj3120329.
A missense mutation (A385 to T), predicting an Ile129 to Phe substitution, in the human Secretor alpha 1,2-fucosyltransferase gene was present in double dose in Lewis(a+b+) individuals, but not in Lewis(a-b+) individuals. Co-segregation of the Lewis(a+b+) phenotype with homozygosity for the mutation was also verified. These results yield a potential molecular basis for the weak Secretor allele (Sew) accounting for the Lewis(a+b+) phenotype.
人类分泌型α1,2-岩藻糖基转移酶基因中的一个错义突变（A385突变为T），预测会导致异亮氨酸129被苯丙氨酸取代，该突变以双倍剂量存在于Lewis(a+b+)个体中，而Lewis(a-b+)个体中则不存在。Lewis(a+b+)表型与该突变纯合性的共分离也得到了验证。这些结果为解释Lewis(a+b+)表型的弱分泌等位基因（Sew）提供了潜在的分子基础。
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