中国输血杂志2025，Vol.38Issue(7)：928-933,6.DOI:10.13303/j.cjbt.issn.1004-549x.2025.07.010
结合一代与三代测序技术分析ABO正反定型不符血型标本的策略研究
Research on the molecular mechanisms of ABO subtypes based on first-generation and third-generation sequencing technologies
摘要
Abstract
Objective To accurately determine the ABO blood group of samples exhibiting forward/reverse grouping discrepancies by combining first-generation(Sanger)and third-generation(long-read)sequencing technologies.Methods Five samples with ABO forward/reverse grouping discrepancies were selected.Serological testing was conducted using auto-mated blood typing instruments and the tube method.Genotyping was conducted using both Sanger and long-read sequencing technologies.Results Sanger sequencing identified specific genetic mutations in two samples,with genotypes of ABO∗BA.04/ABO∗O.01.01 and ABO∗B3.05/ABO∗O.01.02.Further analysis with long-read sequencing revealed specific muta-tions in the+5.8kb region of intron 1(c.28+5885C>T and c.28+5861T>G)in three samples where mutations were not detected by Sanger sequencing.These mutations affect the expression of the ABO antigens and are likely responsible for the ABO subgroup phenotypes.Conclusion The integration of Sanger and long-read sequencing technologies effectively identi-fies genetic variations causing ABO subtypes,providing a scientific basis for enhancing clinical transfusion safety and ensu-ring accurate blood group determination.关键词
ABO亚型/1代测序/3代测序/基因突变/内含子突变Key words
ABO subtybes/first-generation(Sanger)sequencing/third-generation(long-read)sequencing/genetic mutation/intron mutation分类
医药卫生引用本文复制引用
高城燕,张慧,雷航,娄璨,蔡晓红..结合一代与三代测序技术分析ABO正反定型不符血型标本的策略研究[J].中国输血杂志,2025,38(7):928-933,6.基金项目
国家自然基金项目(82070194,82370229) （82070194,82370229）
