α-1,3- N-乙酰半乳糖胺基转移酶基因新变异的家系研究  

Study of a pedigree carrying a novel variant ofα-1,3-N-acetyl galactosaminyl transferase gene

作　　者：武文 李晓健 郭兴莹 黄象艳 Wu Wen;Li Xiaojian;Guo Xingying;Huang Xiangyan(Department of Transfusion Medicine,The 960th Hospital of the PLA Joint Logistics Support Force,Jinan,Shandong 250031,China)

机构地区：[1]解放军联勤保障部队第九六○医院输血医学科,济南250031

出　　处：《中华医学遗传学杂志》2021年第2期178-180,共3页Chinese Journal of Medical Genetics

摘　　要：目的通过对一例ABO亚型家系血清学和基因序列分析,研究该家系中α-1,3-N-乙酰半乳糖胺基转移酶基因新变异位点的特征。方法收集先证者及其3名家系成员血液标本,血清学方法进行ABO表型检测,荧光PCR进行ABO血型基因分型。通过对先证者ABO基因全编码区直接测序及第6、7外显子克隆测序方法进行基因序列及单体型分析。结果先证者血型为AxB亚型,ABO血型基因分型为A/B。克隆测序结果显示A新等位基因在ABO*A1.02序列基础上存在第7外显子c.797_798 insT变异。家系调查发现,先证者及其姐姐新变异均遗传自其父亲。c.797_798insT新变异序列已注册基因数据库(MK125137)。结论α-1,3-N-乙酰半乳糖胺基转移酶基因第7外显子c.797_798insT新变异为可遗传变异,可导致A抗原表达减弱。Objective To explore the genetic basis for a Chinese pedigree with a novel ABO subtype.Methods The proband and his family members were subjected to serological analysis,and their genotypes were determined by fluorescence PCR and direct sequencing of the coding regions of the ABO gene.Exons 6 to 7 of the ABO gene were also subjected to clone sequencing for haplotype analysis.Results The proband was determined as an AxB subtype.By fluorescence PCR,he was typed as A/B.Clone sequencing has revealed a insertional mutation c.797_798 insT in exon 7 of the ABO gene,which yielded a novel allele.Pedigree analysis confirmed that the novel ABO*A1.02 allele carried by the proband and his sister were inherited from their father.The c.797_798insT mutation has been submitted to GenBank with an accession number of MK125137.Conclusion The c.797_798insT mutation of exon 7 of the ABO gene probably has led to weakened expression of A antigen.

关 键 词：ABO血型 新变异 ABO糖基转移酶 

分 类 号：R596[医药卫生—内科学]