WHO HLA命名委员会命名的新等位基因HLA-A*24:327序列分析及确认

目的 发现一个人类白细胞抗原(HLA)-A新等位基因并对其核苷酸序列进行分析及确认。方法 采用序列特异性寡核苷酸探针技术(SSO)对2015年中国造血干细胞捐献者资料库(CMDP)陕西分库入库数据进行HLA常规检测,针对罕见结果进一步选择多聚酶链反应-测序(PCR-SBT)和组序列特异性引物(GSSP)进行确证试验,明确突变位点。结果 SSO分型结果显示为罕见等位基因,经PCR-SBT复核无完全匹配结果,提示疑似新等位基因,经GSSP确证发现该基因与同源基因HLA-B*24:02:01:01相比,在第3外显子544位置发生碱基变异由G>A,该突变造成氨基酸序列158位由丙氨酸(GCC)变成苏氨酸(ACC)。结论 确认了一个新的HLA-A等位基因,2015年12月31日被世界卫生组织HLA命名委员会正式命名为HLA-A*24:327。

Sequence Analysis and Identification of A NovelHLA-A* 24:327 Allele Been Designated by the HLANomenclature Committee of WHO

Objective To do analysis of sequence and identify a novel HLA-A allele in Chinese hematopoietic stem cell donors.Methods A rare HLA-A allele was initially detected by Luminex PCR-SSO typing,then the sample was sequenced by sequence-based typing(SBT)and the group-specific sequencing primer(GSSP)to confirm the mutation allele and locus.Results The sequence of thesample results showed that the allele compared with the highest homologous allele HLA-A*24:02:01:01 was the difference in the exon 3 at position 544 G>A,resulting in an amino acid sequence of HLA-A*24:02:01:01 at position 158 change Ala to Thr.Conclusion This allele is a new HLA-A allele and has been designated as HLA-A*24:327 by the HLA Nomenclature Committee of World Health Organization(WHO)