ABO血型变异与B糖基转移酶关系研究

目的研究ABO血型B亚型系统Bw亚型与B糖基转移酶的关系。方法运用血型血清学鉴定方法鉴定1个家庭2例ABO血型的Bw亚型,运用聚合酶链式反应的方法扩增糖基转移酶1~7号外显子,送到试剂公司测序。结果直接测序发现2例ABO血型的Bw亚型,其中B糖基转移酶基因第721位C〉T的转变,导致糖基转移酶多肽链Arg241Trp的转变。结论糖基转移酶基因第721位的C〉T的突变引起糖基转移酶活性的消失或者减弱,导致Bw亚型。

Study of relationship between variation of ABO blood group and B glycosyltransferase

Objective To study the relationship between Bw phenotypes in the B subtype system of ABO blood group and B glycosyltransferase. Methods The Bw phenotypes in 2 cases of ABO blood group in 1 family were identified by the blood type serological identification technique, glyeosyltraferases 1-7 exons of ABO gene were am- plified and directly sequenced after PCR amplified fragments. Results The direct sequencing found that genotypes of 2 cases of ABO group were Bw/O,in which the C~T tranform of B glyeosyltransferase gene at position 721 caused the transform of glyeosyltransferase polypeptide chain Arg241Trp. Conclusion The mutation of 721 C〉T in the gly- eosyltransferase gene induces the disappearance or attenuation of glycosyltransferase activity and leads to Bw pheno- type.