新的HLA-A等位基因A~*0290的认定

目的确认1个中国人群中的HLA新等位基因。方法使用PCR-SSP和测序为基础的分型技术,分析确认HLA-A的新等位基因与A*02010101的差异。结果先证者HLA-A位点有1个等位基因的核苷酸序列与已知的HLA等位基因均不同,该基因和A*02010101的差异在第2外显子区域的292位碱基C>G,导致74编码子CAC>GAC,编码的氨基酸由组氨酸(His)变成天冬氨酸(Asp)。结论该基因为HLA新的等位基因,2005年10月被世界卫生组织HLA因子命名委员会正式命名为HLA-A*0290。

Identification of a novel HLA-A* 0290 allele by sequencing-based typing

Objective To identify a novel HLA-A allele in Chinese population. Methods A new HLA-A allele was initially detected by an unusual PCR-SSP reaction pattern in a potential bone marrow donor. Sequencing was used to identify the difference between the new allele and HLA-A*02010101 allele. Results The sequence of the novel allele is different from all other known alleles. It differs from A*02010101 by a single nucleotide substitution at position 292C>G in exon 2. This results in an amino acid change from His to Asp at codon 74. Conclusion The novel allele has been confirmed as a new HLA allele and it is officially named HLA-A*0290 by WHO Nomenclature Committee for Factors of the HLA System in Oct. 2005.