Bh类孟买血型的分子机制研究

摘要

目的 研究并探讨1例Bh类孟买血型血清学特点和分子机制.方法 通过血清学的方法鉴定为类孟买血型,采用SSP方法进行ABO血型基因型的确认,采用SBT方法对FUT1基因序列进行分析,确认基因突变的位置.结果 血清学结果确认为Bh分泌型,ABO基因型为O01/B101,FUT1直接测序结果显示在nt661处存在有1处错义突变即C->T,导致221位氨基酸由精氨酸(Arg)→半胱氨酸(Cys).结论 FUT1第4外显子编码区的错义突变即nt661处C->T,使221位的精氨酸(Arg)→半胱氨酸(Cys),这个突变型是第36个FUT1突变型,表现为红细胞H抗原弱表达的类孟买血型,这一种突变型中国人群中为首次报道.%Objective to study serological characteristics of blood type and molecular mechanism of Bh para-Bombay phenotype.Methods ABO and H antigens were detected with routine serological technique,SSP method and the direct sequencing method were used respectively to the confirm of ABO blood group genotypes and FUT1 gene sequence analysis.Results Serological results confirmed as Bh secretory type,the result of ABO gene was O01/B101,Direct sequencing indicated that FUT1 sequnce contained a missence mutation(C->T) at nt661,which could cause the change of amino acid at position 221Arg→Cys.ConclusionWTBZ The mutantion of FUT1 gene at nt 661 was the 36th mutant,showed the RBC weak H antigen expression type of para-Bombay phenotype,this kind of mutant China reported for the first time in the crowd.