【摘要】 目的 鉴定人类白细胞抗原(human leukocyte antigen,HLA）新等位基因A*11∶193的碱基序列变异并模拟其编码蛋白质分子的三维空间结构。方法 应用PCR-SBT测序分型技术发现1例HLA-A位点等位基因结果异常样本，采用单等位基因特异性引物扩增测序进行序列鉴定。应用Swiss-Model网站和spdbv软件对其编码蛋白质分子三级结构模拟并分析。结果 该样本A位点存在1个新碱基序列，其与同源性最高的HLA-A*11∶01∶01相比，第4外显子nt662发生A→G的碱基替代，相应第197位密码子由CAT→CGT，其编码氨基酸由组氨酸(His)改变为精氨酸(Arg)。结论 确认1例HLA-A新等位基因，该等位基因序列被WHO HLA因子命名委员会正式命名HLA-A11:193，其编码蛋白质分子三维结构与HLA-A*11∶01∶01未见明显差异。更多还原

【Abstract】 Objective To identify the sequence variation of human leukocyte antigen(HLA) novel allele A11: 193 and to simulate the three-dimensional structure of the protein molecule. Methods A sample with abnormal allele results was found by PCR-SBT sequencing and identified by single allele specific sequencing. The 3D structure of the encoded protein was analyzed by Swiss-Model. Results Compared with HLA-A*11:01:01, which has the highest homology, exon 4 nt 662 of this sample has a base substitution of A → G, and its corresponding codon 197 is changed from CAT to CGT, which is changed from histidine(His) to arginine(Arg). Conclusion A new allele of HLA-A was confirmed. The allele sequence was named HLA-A11:193 by the WHO HLA Factor Nomenclature Committee and the three-dimensional structure of the protein molecule encoded by HLA-A11: 193 was simulated. There was no significant difference in the three-dimensional structure of the encoded protein between it and HLA-A*11:01:01.更多还原