10例类孟买表型α1,2岩藻糖基转移酶基因序列分析

Sequence analysis of alpha(1,2) fucosyltransferase gene for ten individuals with para-Bombay phenotype

目的:分析10例类孟买血型表型的α1,2岩藻糖基转移酶基因序列情况。方法:ABO、H抗原检测采用血清学方法,利用PCR技术扩增FUT1编码区序列,PCR产物双酶切后直接测序分析。杂合子突变标本采用TOPO TA技术分离得到单链。结果:类孟买血型表型红细胞缺乏H抗原,与抗H试剂不凝集。10例标本直接测定FUT1基因编码区序列,3例为第547-552位AG两碱基缺失(CAGAGAG→CAGAG)纯合子,其它7例为有不同突变点的杂合子。单体型分析显示存在235C、293T、547-552delAG、658T、35T+682G、880-882delTT等6种单体型。结论:类孟买血型存在多种分子遗传机制,最常见单体型为547-552delAG。

Objective：To analyze the sequence of alpha（1,2） fucosyltransferase gene（FUT1） for ten individuals with para-Bombay phenotype.Methods：ABO and H antigens were detected by routine serological techniques.The full coding region of FUT1 was amplified by polymerase chain reaction（PCR）.The PCR product was purified with enzymes digestion and directly sequenced analysis.The haplotypes were separated from the samples with different mutations by TOPO TA cloning technique.Results：The red blood cells of the para-Bombay phenotype were lack of the H antigen and did not agglutinated with H antibody.Three individuals were homozygotes with deletion AG at 547-552 position in coding region sequences of FUT1 and seven individuals were heterozygotes with different mutations at different nucleotide position.235C,293T,547-552delAG,658T,35T and 682G,880-882delTT haplotypes were identified in ten individuals.Conclusion：Molecular basis of the para-Bombay phenotype was diversify with the common haplotype 547-552delAG.