Sun C F, Lo M D, Lee C H, Chu D C
Department of Clinical Pathology, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.
Ann Clin Lab Sci. 2000 Oct;30(4):387-90.
Para-Bombay phenotype, with an estimated incidence of 1 in 8000 in Taiwanese residents based on serological analysis, is caused by aberrant alpha(1,2)-fucosyltransferase function and hence diminished H-antigen synthesis. In an individual with para-Bombay phenotype, DNA sequencing revealed two missense mutations previously reported C658T mutation and a novel G659A mutation. Haplotype analysis with restriction enzyme digestion showed that the two mutations are located on opposing alleles of the H (FUT1) gene and lead to compound heterozygosity. Since no other known genetic changes were evident, it appears that the new missense mutation, G659A, is deleterious to the alpha(1,2)-fucosyltransferase function encoded by the H (FUT1) gene.
类孟买血型，根据血清学分析，在台湾居民中的估计发病率为八千分之一，是由异常的α(1,2)-岩藻糖基转移酶功能导致H抗原合成减少所致。在一名类孟买血型个体中，DNA测序揭示了两个先前报道的错义突变，即C658T突变和一个新的G659A突变。用限制性酶切进行单倍型分析表明，这两个突变位于H（FUT1）基因的相对等位基因上，导致复合杂合性。由于没有其他明显的已知基因变化，新的错义突变G659A似乎对H（FUT1）基因编码的α(1,2)-岩藻糖基转移酶功能有害。
