摘要目的 序列分析及认定1例中国人群HLA新等位基因.方法 应用聚合酶链反应-序列特异性寡核苷酸探针(polymerase chain reaction-sequence specific oligonucleotide probes,PCRSSOP)基因分型方法和基于测序的分型方法(sequencing-based typing,SBT),通过软件分析该基因序列及与最相近等位基因序列的差异.结果 PCR-SSOP结果显示,该样本HLA-B位点反应格局出现异常提示；测序结果最终表明其B位点第2外显子序列与所有已知HLA-B等位基因序列均不一致,与序列最相近的等位基因B* 40:01:01,在所检测的第2、3、4外显子中的差异只是在第2外显子发生了nt103G→T,nt106A→G两个核苷酸替代,并导致相应的第35位密码子由A(丙氨酸)→S(丝氨酸),第36位密码子由M(蛋氨酸)→V(缬氨酸).结论 该基因为HLA-B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-B* 40:74( HWS10004518-EF458488).

abstractsObjective To identify and confirm a novel HLA allele in a Chinese individual.Methods A new HLA allele was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) and sequencing-based typing (SBT).Results The new sequence differs from HLA-B * 40:01:01 by two nucleotide substitutions in exon 2 at positions 103 (G＞T) and 106 (A＞G) ; These mutations result in two codon changes:at codon 35 (GCC＞TCC) where an alanine (A) is substituted by a serine(S) and at codon 36(ATG＞GTG) where a methionine(M) is substituted by a valine (V).Conclusion A novel HLA allele,HLA-B * 40:74,was identified,and was named officially by the WHO Nomenclature Committee (HWS10004518 - EF458488).