h^328（nt328G〉A）突变致类孟买血型的血清学及分子生物学分析

Serological and molecular analysis of a case with para-Bombay phenotype caused by a h^328（nt328G〉A ） mutation

目的对1例类孟买型个体进行血清学方法鉴定，并探讨其分子机制。方法采用血型血清学方法确定先证者的红细胞血型，用PCR扩增ABO基因第6、7外显子、FUT1和FU心基因全编码区域，并分别对PCR扩增产物进行测序分析。结果血清学实验结果表明先证者为类孟买血型Ah-分泌型。测序结果显示ABO基因型为A102／O01；FUT1基因的328位点由G突变为A，导致110位丙氨酸（Ala）被苏氨酸（Thr）置换。结论FUT基因编码区nt328（G〉A）错义突变可能是本例类孟买型的分子生物学基础。

Objective To explore the serological characteristics and molecular basis for an individual with par-Bombay phenotype. Methods Blood type of the proband was determined with routine serological methods. Exons 6 and 7 of the ABO gene and coding regions of the FUTI and FUT2 genes were amplified by PCR and sequenced. Results The para-Bombay phenotype was confirmed to be of Ah-secretion type. The genotype of the individual was determined as A102/O01. Position 328 of the FUT1 gene was mutated from A to G, resulting in replacement of Alanine （Ala） at position 110 by Threonine （Thr）. Conclusion The G〉A mutation of nt328 of the FUT1 gene probably underlies the para-Bombay phenotype in this individual.