人类白细胞抗原新等位基因B＊07：110的序列分析及确认

Identification of a novel human leucocyte antigen allele B＊07：110

背景:近几年来,随着中华骨髓库的建立和人类白细胞抗原分型技术的不断发展和提高,中国人类白细胞抗原新等位基因不断被发现。目的:采用序列分析确认1例中国人的人类白细胞抗原新等位基因。方法:应用聚合酶链式反应-序列特异性寡核苷酸探针基因分型技术进行样本的人类白细胞抗原基因分型,并应用基于测序的方法分析该基因序列及与最相近等位基因序列的差异。结果与结论:聚合酶链式反应-序列特异性寡核苷酸探针结果显示,该样本人类白细胞抗原B基因座反应格局出现异常;基因测序结果表明,其B基因座第2外显子序列与所有已知人类白细胞抗原B等位基因序列均不一致,在所检测的第2、3外显子中,与序列同源性最高的等位基因B*07:01:02的差异是在第2外显子发生了nt 226和nt 228两个A->G核苷酸取代,导致第76位密码子由ATA->GTG,相应的导致氨基酸由异亮氨酸(I)改变为缬氨酸(V)。将其序列提交国际基因数据库(Gen Bank)及IMGT/HLA数据库,证实该新人类白细胞抗原等位基因为国际上首次发现,被世界卫生组织织人类白细胞抗原因子命名委员会正式命名为人类白细胞抗原B*07:110(HM989017)。

BACKGROUND：In recent years, with the development of China Marrow Donor Program and the improvement of human leukocyte antigen （HLA） typing technique, novel aleles of human leukocyte antigen have been discovered constantly in China. OBJECTIVE：To identify and confirm a novel HLA alele in a Chinese individual. METHODS： A new HLA alele was found during routine human leukocyte antigen genotyping by PCR-sequence specific oligonucleotide probes and sequencing-based typing. RESULTS AND CONCLUSION：The HLA-B locus hybridization probe reaction patterns of this sample did not match with any known HLA-B aleles or alelic combinations. Exons 2, 3 were sequenced in both directions using HLA-B sequence primer and group-specific sequencing primer. The obtained sequence had 2nts change from B＊07：02：01 at nt 226 and nt 228 where A-＆gt;G （codon 76 ATA-＆gt;GTG） and resulting in a coding change, 76＆amp;nbsp;isoleucine （I） was changed to valine （V）. This nucleotide sequence has been submitted to the GenBank nucleotide sequence database and it is available under the accession number HM989017. A novel HLA alele, HLA-B＊07：110, was identified, and was named officialy by the WHO Nomenclature Committee.