ABO变异型基因c.425 T>C突变致B抗原弱表达的鉴定分析  

Identification and analysis of weak B antigen expression caused by ABO variant gene c.425 T>C mutation

作　　者：钟锦灶 朱碎永[2] 裘晓乐[2] 林甲进[2] ZHONG Jin-zao;ZHU Sui-yong;QIU Xiao-le;LIN Jia-jin(The People's Hospital of Pingyang County,Pingyang,Zhejiang 325400,China)

机构地区：[1]平阳县人民医院,浙江平阳325400 [2]温州医科大学附属第二医院育英儿童医院,浙江温州325027

出　　处：《中国卫生检验杂志》2020年第3期286-287,290,共3页Chinese Journal of Health Laboratory Technology

基　　金：温州市科技计划项目(Y20170209);贺林院士新医学临床转化工作站科研基金重点项目(18331104);平阳县社会发展科技计划项目(Y2018A35)。

摘　　要：目的探讨1例ABO变异型基因c.425 T>C突变对B抗原弱表达的鉴定分析。方法采用凝集法鉴定ABO血型,采用聚合酶链反应-序列特异性引物(PCR-SSP)、ABO亚型基因分型等技术进行基因鉴定和序列分析。结果先证者红细胞上含弱B抗原,血清中含抗-A抗体;血型基因型为B01,克隆测序等位基因为B305和O01;B305等位基因序列与标准序列相比发现c.425 T>C突变,引起多肽链P.Met 142Thr替换。结论ABO变异型基因c.425 T>C突变产生B305等位基因,引起B抗原弱表达。Objective To identify and analyze the effect of the mutation of c.425 T>C on the weak expression of B antigen of an ABO variant.Methods ABO blood group was confirmed by standard serological techniques.The genotyping and sequencing were performed by using polymerase chain reaction-sequence specific primer(PCR-SSP)and ABO subtype genotyping.Results It is detected there is weak B antigen on the red blood cell and anti-A antibody in the serum of the proband,the genotype of whom is B01.Cloning and sequencing discovered the B305 and O01 alleles.c.425 T>C mutation is detected in B305 compared to the standard sequencing,which results in Met 142 Thr replacement in the polypeptide chain.Conclusion The ABO mutant gene c.425 T>C mutation produces the B305 allele,causing weak expression of the B antigen.

关 键 词：ABO血型 ABO基因 B305亚型 聚合酶链反应-序列特异性引物 

分 类 号：R457.11[医药卫生—治疗学]