基于测序技术鉴定血型基因5873CT突变引起B抗原弱表达  

Identification of B Antigen Weak Expression Caused by 5873CT Mutation in Blood Group Gene Based on Sequencing Technique

作　　者：方小敏[1] 刘伟[1] 杨斌[1] 刘岩 曲秀娟[2] FANG Xiao-Min;LIU Wei;YANG Bin;LIU Yan;QU Xiu-Juan(Department of Experimental Medicine(Department of Laboratory,Department of Blood Transfusion),The Fifth Affiliated Hospital,Sun Yai-sen University,Zhuhai 519000,Guangdong Province,China;Medical department,The Fifth Affiliated Hospital,Sun Yai-sen University,Zhuhai 519000,Guangdong Province,China)

机构地区：[1]中山大学附属第五医院实验医学部(检验科、输血科),广东珠海519000 [2]中山大学附属第五医院医务部,广东珠海519000

出　　处：《中国实验血液学杂志》2021年第6期1929-1934,共6页Journal of Experimental Hematology

基　　金：广东省基础与应用基础研究基金项目(2019A1515110566)。

摘　　要：目的:探讨血型基因分型和基因测序技术在鉴定血型亚型中的作用和意义。方法:利用血型血清学方法对先证者及其儿子进行初步血型鉴定,根据血清学表达格局结果选择疑难血型的补充实验,并进行ABO基因分型及测序。结果:血清学实验发现,先证者及其儿子有弱B抗原的表达,血型血清学方法初步鉴定为B3亚型。ABO基因分型明确了先证者的基因型为B/O1,其儿子的基因型为B/O2。最终通过基因测序,证实先证者及其儿子的B101等位基因上intron1内均存在5873C>T杂合突变。结论:采用血清学、基因分型和测序相结合的方法,可发现血型基因新突变位点,有益于阐明ABO亚型的分子生物学基础,对精准血型鉴定、个体化用血及输血安全有着重要战略意义。Objective: To explore the role and significance of blood group genotyping and gene sequencing technology in the identification of blood group subtypes. Methods: Blood type of the proband and his son were identified by blood type serology,and ABO genotyping and DNA sequencing were performed according to the results of serological expression pattern. Results: The weak B antigen expression was found in the proband and his son by serological test,and was preliminarily identified as B3 subtype. The ABO blood group genotyping confirmed that the genotype of the proband and his son was B/O1 and B/O2,respectively. Finally,through gene sequencing,it was confirmed that the B101 allele of the proband and his son showed a heterozygous mutation of 5873 CT. Conclusion: The combination of serology,genotyping and sequencing showed find new blood group gene mutation sites,which is important strategic significance for accurate blood group identification,personalized blood use and trasfusion safety,which is beneficial to clarify the molecular biological basis of ABO blood group subtypes.

关 键 词：血型鉴定 血型亚型 基因分型 基因测序 

分 类 号：R446.6[医药卫生—诊断学] R457.11[医药卫生—临床医学]