中国输血杂志2026，Vol.39Issue(6)：750-756,767,8.DOI:10.13303/j.cjbt.issn.1004-549x.2026.06.007
乌鲁木齐地区23例ABO亚型的三代测序分子遗传分析及新等位基因鉴定
Third-generation sequencing-based molecular genetic analysis and novel alleles identification of 23 ABO subtypes in Urumqi
摘要
Abstract
Objective To investigate the molecular genetic background of ABO subgroups among 23 multi-ethnic volun-tary unpaid blood donors in Urumqi.Methods A total of 23 blood donor samples of ABO subgroups with ABO group dis-crepancies detected by serological tube test were collected.Preliminary ABO genotyping was performed by polymerase chain reaction with sequence-specific primers(PCR-SSP)or real-time fluorescence polymerase chain reaction(RT-PCR).PacBio third-generation sequencing(TGS)was then applied for full-length ABO gene sequencing and haplotype analysis for all samples.Results A total of 46 haplotype sequences containing single nucleotide variants(SNVs)of ABO alleles were obtained from 23 samples by TGS.Common known ABO alleles were identified including ABO*A1.02,ABO*B.01,ABO*O.01.01,ABO*O.01.02 and ABO*O.01.02.Known ABO subtype alleles included ABO*A2.01,ABO*AW.37,ABO*AW.25,ABO*AW.06,ABO*B3.01,ABO*BW.07 and ABO*BW34.Three novel ABO alleles were identified:ABO*A2.NEW(c.1040_1041insA),ABO*B.NEW(c.949A>G)and ABO*B.NEW(c.1029G>A),all of which have been deposi-ted and released in NCBI GenBank.Conclusion Third-generation sequencing can accurately obtain the complete sequence of ABO gene and distinguish haplotypes.This study elucidates the molecular genetic background of 23 ABO subtypes,provi-ding a reference for accurate blood group typing and ensuring transfusion safety.关键词
ABO 亚型/三代测序/单倍型/新等位基因Key words
ABO subtype/third-generation sequencing/haplotype/novel allele分类
医药卫生引用本文复制引用
乔艳辉,郭伟鹏,木耶赛尔·伊斯马依力,徐保红..乌鲁木齐地区23例ABO亚型的三代测序分子遗传分析及新等位基因鉴定[J].中国输血杂志,2026,39(6):750-756,767,8.基金项目
新疆维吾尔自治区"天山英才"医药卫生高层次人才培养计划项目(TSYC202301B089) （TSYC202301B089）
