中国汉族人群检出新的B(A)641T>C等位基因  

Study on B(A) phenotypes and identification of novel B(A)641 allele in chinese population

作　　者：郭忠慧[1] 向东[1] 朱自严[1] 刘曦[1] 陈和平[1] 刘达庄[1] 

机构地区：[1]上海市血液中心,上海200051

出　　处：《中国输血杂志》2006年第1期17-20,共4页Chinese Journal of Blood Transfusion

基　　金：上海市自然科学基金资助课题(编号02ZB14087);上海市卫生局科研基金资助课题(编号131014Y14)

摘　　要：目的明确稀有ABO表现型的遗传学基础。方法对ABO血清学常规定型正反不一致的样本,采用PCR-RFLP方法作初步基因分型,对8例血清学表现为AwB,而基因分型具有O基因的个体,进行ABO基因第6和7外显子PCR产物的TA克隆及核苷酸序列测定。结果8例样本除1对为母女关系外,其余无任何亲缘关系,血清学表现相似,红细胞上含有接近正常的B抗原和少量A抗原,H抗原含量较正常B细胞显著增高,血清中存在抗-A,初定为AwB,基因分型均为BO。克隆测序表明除具有正常O1或者O1V基因外,他们的B基因第7外显子在正常B等位基因的基础上,均发生单碱基突变,4例发生nt700C>G点突变,导致Pro234Ala,2例无关个体为nt640A>G点突变,导致Met214Val,1对母女均表现nt641T>C点突变,导致Met214Thr。证实所有8例样本真正血型应为B(A)表现型,其基因型均为B(A)/O型。结论在中国汉族人群中检出3种B(A)血型,除了已在我国台湾首先被发现的B(A)700C>G和笔者以前报道的B(A)640A>G之外,新发现1种B(A)641T>C等位基因。Objective To determine the genetic basis of 8 ABO blood group samples which showed conflicting results for blood grouping and genotyping. Methods An absorption-elution test and family study were conducted to study ABO subgroups involved in ABO grouping discrepancies. PCR-SSP and PCR-RFLP methods were used for ABO genotyping. PCR products of exon 6 and 7 were cloned and sequenced. Results All of these samples were suspected to be the Aw,,kB phenotype by blood group serological test and to have a BO genotype by primary genotyping. Results of the sequencing analysis indicated that four out of the 8 samples had the nt700C〉G mutation in the B gene, which were previously defined as B（A）700. Among the remaining 4, 2 unrelated individuals had the same novel 640A 〉G mutation as we reported before, while the other 2 individuals who were mother and daughter had a 641T〉C mutation. All 8 samples displayed the B（A） phenotype. Their real genotypes were B（A）/O. Conclusion Three B（A） alleles in the Chinese Han population were detected. Two alleles, B（A）700,B（A）640 were reported previously. One novel allele B（A）641 , was first identified in this study.

关 键 词：ABO亚型 B(A)血型 CisAB血型 等位基因 

分 类 号：R457.11[医药卫生—治疗学]