一例ABO^* B3.05/O.01.01基因型鉴定及其遗传学特点  

Serologic and genetic characteristics of an ABOB^* 3.05/O.01.01 case with B3 phenotype

作　　者：史丽莉[1] 陆乐[2] 肖建宇[1] 黄成垠[1] 丁文艺 李平[2] 陈青[1,3] SHI Lili;LU Le;XAO Jianyu;HUANG Chengyin;DING Wenyi;LI Ping;CHEN Qing(Jiangsu Province Blood Center,Nanjing 210042,China;Department of Blood Transfusion,the Affiliated Drum Tower Hospital of Nanjing University;Center for Global Health,School of Public Health,Nanjing Medical University)

机构地区：[1]江苏省血液中心,江苏南京210042 [2]南京大学医学院附属鼓楼医院输血科 [3]南京医科大学全球健康中心

出　　处：《中国输血杂志》2020年第12期1229-1231,共3页Chinese Journal of Blood Transfusion

基　　金：江苏省“十三五”期间“科教强卫工程”医学重点人才(ZDRCB2016010);江苏省重点研发计划社会发展项目(BE2015717);江苏省高层次卫生人才“六个一工程”拔尖人才项目(LGY2017095);江苏省第五期“333高层次人才培养工程”(2016-III-3344)。

摘　　要：目的应用血清学和分子生物学方法鉴定1例ABO正反定型不一致,出现混合视野凝集的患者标本,并探讨其遗传学特点。方法采用试管法鉴定该患者ABO表型,聚合酶链反应扩增ABO基因第6,7外显子序列并进行双链测序和克隆测序分析,确定其单体型。结果该患者正定型B抗原减弱,且出现混合视野凝集,反定型检出抗-B。ABO基因扩增产物测序及克隆测序结果表明该患者ABO血型基因型为ABO^*B3.05/O.01.01。ABO基因测序发现ABO^*B.01等位基因第7外显子425位碱基发生T>C变异,导致142位甲硫氨酸(Met)被苏氨酸(Thr)替换(p.Met142Thr),造成糖基转移酶活力降低。结论 ABO基因的c.425T>C变异可能是导致该患者B抗原表达减弱的遗传学机制。Objective To explore the genetic characteristics of a clinical sample of serological ABO blood grouping discrepancy with mixed-field agglutination by serological and molecular biological methods.Methods ABO phenotype was determined by tube test.The exon 6 and 7 of the ABO gene was amplified by polymerase chain reaction(PCR)and sequenced,and the haplotypes were determined by cloning sequencing.Results The forward typing of the patient′s red blood cells(RBCs)showed decreased B antigen with mixed-field agglutination,and anti-B was detected by reverse typing.The ABO blood group genotype of the patient was ABO^*B3.05/O.01.01.ABO gene sequencing and cloning sequencing showed that T to C nucleotide exchange at position 425 in exon 7 of ABO^*B.01 results in amino acid exchange of p.Met142 Thr which was expected to diminish the glycosyltransferase activity.Conclusion The molecular mechanism for the decreased B antigen with mixed-field agglutination in this patient was caused by a c.425 T>C substitution in the ABO gene.

关 键 词：B3 混合视野 基因变异 ABO亚型 

分 类 号：R457.11[医药卫生—治疗学]