新等位基因HLA-B*37:04:02的序列分析

摘要

Objective To report on a novel HLA allele identified in a Chinese individual.Methods Routine HLA genotyping was carried out with polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) and sequencing-based typing (SBT).Results A new HLA allele has been identified.The sequence differed from its closest allele B * 37:04:01 at nt618 (GCG→GCA),which resulted in no change of codon 206.Conclusion A novel HLA allele HLA-B * 37:04:02 (GU391034) has been identified and officially named by the WHO Nomenclature Committee.%目的 确定1名中国人的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,PCR-SSOP)基因分型技术和基于测序的分型方法(sequencing-based typing,SBT)对1名中华骨髓库辽宁分库志愿捐献者的HLA基因进行分型,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,该个体HLA-B基因座反应格局出现异常;测序结果表明其B基因座第3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*37:04:01在所检测的第2和3外显子中的差异只是在第3外显子发生了nt 618 G＞A 1个核苷酸替代,导致相应的第206位密码子由GCG＞GCA,但第206位编码的丙氨酸并未改变.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* 37:04:02 (GU391034).