人类白细胞抗原新等位基因HLA-A＊3020的鉴定及确认

Identification of a new human leukocyte antigen A allele, HLA-A ＊ 3020

目的鉴定及确认1名中国人的人类白细胞抗原（human leukocyte antigen，HLA）新等位基因。方法应用聚合酶链式反应-序列特异性寡核苷酸探针（polymerase chain reaction—sequence specific oligonucleotide probes，PCR—SSOP）方法基因分型、PCR产物测序和基因克隆DNA测序方法，通过软件分析该基因序列及与最相近HLA等位基因序列的差异。结果PCR-SSOP基因分型结果显示该样品HLA-A谱型为与已知HLA—A等位基因谱型不一致的新谱型；测序结果显示该样品HLA—A位点第2外显子序列与所有已知HLA—A等位基因序列不一致。软件分析表明该基因序列与序列最相近的等位基因A＊300101，在所检测的第1～3外显子中的差异只是在第2外显子区域产生了nt294C→A一个碱基替代，并导致相应的密码子98由GAC（D）→GAA（E）。结论该基因为HLA新等位基因，被世界卫生组织HLA因子专用术语命名委员会正式命名为HLA—A＊3020。

Objective To identify a novel human leukocyte antigen（HLA） A allele. Methods A new HLA-A allele was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes （PCR SSOP） and sequencing based typing （SBT）. Results The novel HLA-A ＊ 30 allele was identical to A ＊ 300101 except that a nucleotide C at position 294 of exon 2 is substituted by A, resulting in codon 98 changed from GAC （D） to GAA （E）. Conclusion A new HLA allele, HLA-A 3020, was identified, and was named officially by the WHO Nomenclature Committee.