基因分型测序在红细胞血型和配型中的应用  

Application of genotyping and sequencing in identification and matching of red blood cells

作　　者：朱晓丽 戚曦 李安明 韩俊岭 秦奕 陈艳飞 高灵宝 ZHU Xiaoli;QI Xi;LI Anming;HAN Junling;QIN Yi;CHEN Yanfei;GAO Lingbao(Department of Blood Transfusion,the Affiliated Taizhou People's Hospital of Nanjing Medical University,Taizhou,Jiangsu,225300,China;Department of Clinical Laboratory,the Affiliated Yancheng Maternity&.Child Health Hospital of Yangzhou University)

机构地区：[1]南京医科大学附属泰州人民医院输血科,江苏泰州225300 [2]扬州大学附属盐城妇幼保健院检验科

出　　处：《临床血液学杂志》2025年第2期117-121,共5页Journal of Clinical Hematology

基　　金：江苏省输血协会爱康生物科研基金资助项目(No:JSAK2022018)。

摘　　要：目的:尝试通过基因分型和基因测序明确血型并选择相合的血液。方法:将临床疑难血型且无法匹配到相合血液的标本应用PCR进行基因分型和测序。结果:患者1血清学试验疑为B亚型,基因荧光分型为B/O1,测序结果为在Exon 7上721位点发生C>T转变,鉴定血型为Bw.03/O.01.01。患者2血清学Rh分型为抗原阴性,基因荧光分型为CcDEe,RHAG外显子测序结果为在Exon 5上发生纯合型移码突变,导致Rh抗原在红细胞膜无法表达形成Rh-null表型。结论:临床疑难血型且无法匹配到相合血液时,除采用不规则抗体鉴定、吸收放散等血清学试验外,应结合基因分型和基因测序明确血型,以选择相合的血液,减少溶血性输血反应。Objective:To identify blood type by genotyping and sequencing and select the right blood.Methods:The specimens whose blood type could not be identified or matched to the right blood were genotyped and sequenced by PCR.Results:The serological test of Patient 1 was suspected subtype B.Gene fluorescence was typed as B/O1.Sequencing revealed a C>T transition at site 721 on Exon 7.The blood type was identified as Bw.03/O.1.Ol.The serology for Rh typing of Patient 2 was antigen negative.Gene fluorescence was typed as CcDEe.Sequencing revealed a homozygous frameshift mutation of the RHAG exon on Exon 5 leading to the formation of the Rh-null phenotype without Rh antigen expression in the erythrocyte membrane.Conclusion:When blood type is difficult to be identified and matched to the right blood,in addition to serological tests such as irregular antibody,identification,absorption and dissemination,the blood type should be defined by genotyping and gene sequencing to select the compatible blood to reduce the hemolytic transfusion reaction.

关 键 词：血型 基因型 Bw.03 Rh-null 

分 类 号：R457[医药卫生—治疗学]