摘要目的 鉴定3个在中国汉族人群中发现的人类白细胞抗原(human leukocyte antigen,HLA)A位点新等位基因A* 24:224、A* 24:225和A* 24:257.方法 应用双链直接测序分型技术进行中华骨髓库志愿者常规HLA分型,对其中HLA-A位点无完全匹配结果者,采用等位基因特异性扩增测序分型方法进行新等位基因序列鉴定.结果 3例先证者在HLA-A位点分别有一个未知的新碱基序列,3个新序列均与HLA-A* 24:02:01:01最为相近,但在第2外显子分别出现了1或2个的碱基取代,并导致相应的密码子及其编码的氨基酸的改变.结论 3个新碱基序列均确认为HLA-A新等位基因,分别于2012年11月和2013年11月被世界卫生组织HLA因子命名委员会正式命名为HLA-A* 24:224、HLA-A*24:225和HLA-A* 24:257.

abstractsObjective To verify 3 novel HLA-A alleles A * 24:224,A * 24:225 and A * 24:257 identified in Chinese Han individuals.Methods No full matched results were obtained at HLA-A locus in HLA typing for China Marrow Donor Program (CMDP) using bi-allelic Sequence-Based Typing (SBT).The novel HLA alleles were identified with allele-specific amplification SBT.Results All of the three probands had a novel nucleotide sequence at HLA-A locus.All of the 3 new sequences are most close to HLA-A* 24:02:01:01 except for 1 or 2 nucleotide substitution in exon 2,which resulted in different changes in corresponding codons and encoded amino acids.Conclusion Three novel HLA-A alleles were confirmed and officially named as HLA-A * 24:224,HLA-A * 24:225 and HLA-A * 24:257 under the GenBank accession numbers JQ899198,JQ924283 and HG003642 by the WHO Nomenclature Committee for Factors of the HLA System in November 2012 and November 2013,respectively.