HLA新等位基因B*4086的确认及家系调查

 目的 识别和鉴定HLA新等位基因B*4086，调查分析该基因的遗传情况。方法 应用聚合酶反应-序列特异性寡核苷酸探针（PCR-sequence specific oligonucleotide primer，PCR-SSOP）技术对中华骨髓库志愿捐献者血样进行HLA分型，发现1例HLA-B疑似新等位基因，用DNA测序技术鉴定新等位基因并对该基因的携带者进行家系调查。结果 经DNA测序确定为HLA新基因序列，该基因与 HLA-B*40060101相比，第3外显子419位碱基由A→T，导致相应的140位密码子编码的氨基酸由酪氨酸（Tyr）→苯丙氨酸（Phe）。家系分析表明该新基因来自携带者母亲一方。结论 DNA测序表明被测样本含有HLA-B新等位基因，于2008年2月被世界卫生组织HLA因子命名委员会正式命名为HLA-B*4086，该新基因遗传于先证者母亲。

Identification of a novel HLA allele, HLA-B*4086, and investigation of its family pedigree

Objective To identify a novel HLA allele, HLA-B*4086, in Chinese population and to investigate its pedigree. Methods An exceptional reaction pattern was detected in routine HLA typing of a CMDP (China Marrow Donor Programme) sample by PCR-sequence specific oligonucleotide primer (PCR-SSOP) assay. A new HLA-B allele was confirmed by sequence-based typing. Then family investigation was performed. Results DNA sequencing confirmed a new HLA allele. Compared with the closest macthing allele HLA-B*40060101, the novel allele has a difference at nt419 (A→T) in exon 3, which resulted in an amino acid change from Tyr to Phe at codon 140. Family investigation indicated the new allele derives from mother of the carrier. Conclusions One novel HLA allele was confirmed by sequencing based typing and it had been designated as HLA-B*4086 by the WHO Nomenclature Committee. This novel allele was inherited from mother of the carrier.