人类白细胞抗原新等位基因HLA-A*3020的鉴定及确认

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nt 294 C→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.

Identification of a new human leukocyte antigen A allele, 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.