一例ABO变异型Bw37等位基因的鉴定  

Identification of a variant Bw37 allele of the ABO gene

作　　者：袁雯靖 陈芊芊 林甲进[1] Yuan Wenjing;Chen Qianqian;Lin Jiajin(The Second Affiliated Hospital and Yuying Children′s Hospital,Wenzhou Medical University,Zhejiang 325027,China)

机构地区：[1]温州医科大学附属第二医院育英儿童医院,浙江325027

出　　处：《中华医学遗传学杂志》2022年第7期777-779,共3页Chinese Journal of Medical Genetics

基　　金：温州市科技计划(Y20210104;Y2020950);贺林院士新医学临床转化工作站科研基金重点项目(18331104)。

摘　　要：目的对一例罕见的ABO变异型Bw37等位基因进行鉴定及测序,探讨其分子机制。方法采用试管凝集法鉴定ABO正反血型,用序列特异性引物-聚合酶链反应(polymerase chain reaction-sequence specific primer,PCR-SSP)法进行ABO基因分型,直接测定ABO基因第6、7外显子的核苷酸序列并对结果进行分析。结果先证者血清学鉴定ABO正定型为B弱、反定型为B型。ABO基因分型为B/B。第6、7外显子测序提示存在c.297A>G、c.526C>G、c.657C>T、c.703G>A、c.796 C>A、c.803G>C、c.930G>A变异,导致p.R176G、p.G235S、p.G268A氨基酸改变。ABO血型基因型为ABO*Bw37/B101。其母亲ABO正反定型均为O型,ABO血型基因型为ABO*O.01.02/ABO*O.01.01。结论采用常规血型血清学结合基因分型技术对一例ABO亚型Bw37进行了鉴定。Objective To explore the molecular basis for an individual with a rare variant of Bw37 phenotype.Methods Tube agglutination testing was used to determine the ABO blood groups.Genotyping were carried out using polymerase chain reaction-sequence specific primer(PCR-SSP)and direct sequencing for exons 6 and 7 of the ABO locus.Results Serologic testing of the proband showed that he was weak B for the positive ABO blood typing and B for the negative blood typing.The genotype of him was determined as B/B by PCR-SSP.DNA sequencing showed that he has harbored c.297A>G,c.526C>G,c.657C>T,c.703G>A,c.796C>A,c.803G>C and c.930G>A variants,which have resulted in p.R176G,p.G235S and p.G268A substitutions.The genotypes of the proband and his mother were identified as ABO*Bw37/B101 and ABO*O.01.02/ABO*O.01.01,respectively.Conclusion Serological identification combined with genotyping should be considered for the verification of ABO subtypes.

关 键 词：Bw37亚型 ABO基因 基因变异 

分 类 号：R457.11[医药卫生—治疗学]