中国输血杂志2025，Vol.38Issue(3)：303-308,321,7.DOI:10.13303/j.cjbt.issn.1004-549x.2025.03.001
杂交探针捕获与扩增子文库构建法对HLA基因分型分辨水平的影响
Influence of hybridization probe capture and amplicon library construction methods on HLA genotyping resolution level
摘要
Abstract
Objective To compare next generation sequencing(NGS)library construction technology between probe hybridization capture and amplicon methods,and analyze the influencing factors of HLA genotyping resolution level and its prospects in clinical applications.Methods A total of 207 clinical samples with known typing results and samples from the proficiency testing plan were selected.The conformity rate of HLA genotyping results,allele coverage and typing data analy-sis indicators were confirmed,and the effects of two library construction methods on the level of HLA genotyping discrimina-tion were compared.Results The concordance rate of 207 samples with the feedback results of PT or prior well-character-ized HLA genotypes was 100%.Among them,91 samples were captured using hybridization probe capture method.Com-pared with the original amplicon method,the hybridization probe capture method can distinguish the alleles of DRB1 and DPB1 that cannot be determined in 13 samples.The allelic imbalance of DRB1,DPA1,and DQB1 loci in 6 samples was re-solved.Three samples were found to have missed detection of alleles at the DQA1 and DQB1 loci.Conclusion The per-formance indicators of hybridization probe capture and amplicon performance confirmation meet the requirements of clinical detection of HLA genotyping,which provides an experimental method and basis for clinical application.关键词
HLA/高通量测序/等位基因/临床应用Key words
HLA/next generation sequencing/allele/clinical application分类
医药卫生引用本文复制引用
袁晓妮,张腾腾,李杨,姜雪,杨天杰,鲍晓晶,何军..杂交探针捕获与扩增子文库构建法对HLA基因分型分辨水平的影响[J].中国输血杂志,2025,38(3):303-308,321,7.基金项目
国家自然科学基金(82070180) （82070180）
江苏高校血液学协同创新中心(SX21100121) （SX21100121）
