碱基插入产生HLA无效等位基因的序列分析及确认  

Sequence Analysis and Confirmation of an HLA Null Allele Generated by a Base Insertion

作　　者：全湛柔 钟艳平[1] 何柳媚[1] 杨冰娜 邹红岩[1] QUAN Zhan-Rou;ZHONG Yan-Ping;HE Liu-Mei;YANG Bing-Na;ZOU Hong-Yan(Institute of Transfusion Medicine,Shenzhen Blood Center,Shenzhen 518040,Guangdong Province,China)

机构地区：[1]深圳市血液中心输血医学研究所,广东深圳518040

出　　处：《中国实验血液学杂志》2025年第1期276-279,共4页Journal of Experimental Hematology

基　　金：深圳市医学重点学科建设经费资助(SZXK070)。

摘　　要：目的:确认1例碱基插入产生无效等位基因HLA-C*08:127N的序列。方法:应用PCR-SSOP及PCR-SBT进行HLA常规检测,发现1例急性髓系白血病患者HLA-C的序列图谱均存在异常。应用二代测序技术对该位点序列进行确认。结果:HLA-C位点SSOP分型结果为C*03:04,C*08:01;SBT结果分析时发现序列在第3外显子疑似插入或缺失,二代测序确认结果为C*03:04,C*08:127N。结论:碱基插入产生HLA无效等位基因,SBT分析软件无法给出正确的结果,而二代测序技术可以更直观得到准确的HLA分型结果。Objective:To confirm the sequence of a null allele HLA-C*08:127N produced by a base insertion.Methods:PCR sequence-specific oligonucleotide probe(SSOP)and PCR sequence-based typing(SBT)were used for HLA routine detection,which discovered abnormal sequence maps of HLA-C in one acute myeloid leukemia patient.The sequence of the above loci was confirmed by next generation sequencing(NGS)technology.Results:The SSOP typing result showed that HLA-C locus was C*03:04,C*08:01,while the sequence was suspected to be inserted or deleted in exon 3 by SBT,and finally confirmed by NGS as C*03:04,C*08:127N.Conclusion:When base insertion produces HLA null alleles,SBT analysis software cannot provide correct results,but NGS technology can more intuitively obtain accurate HLA typing results.

关 键 词：人类白细胞抗原 无效等位基因 碱基插入 移码突变 二代测序 

分 类 号：R446.11[医药卫生—诊断学]