基因测序鉴定新等位基因A33:03:14

Identification of a novel HLA-A allele HLA-A*33:03:14 by sequence-based typing

目的鉴定一个广东省结直肠癌患者人群中发现的HLA新等位基因并检测分析其核苷酸序列。方法采用Qiagen试剂盒提取样本DNA,聚合酶链式反应-直接测序分型技术(PCR-SBT)获得HLA-A、HLA-B、HLA-C、HLA-DRB1的核苷酸序列及HLA高分辨率分型结果,并分析其与HLA-A*33:03:01基因序列的异同。结果发现1个与HLA-A*33:03:01核苷酸序列高度相似的新等位基因,与已知HLA-A*33:03:01相比,该等位基因在外显子3的碱基位置492出现T→A点突变,密码子位置149由GCT→GCA,所对应编码的氨基酸均为丙氨酸,为同义突变。结论基因测序结果表明该基因序列为新的HLA等位基因,已提交GeneBank,并于2013年2月被世界卫生组织HLA因子命名委员会正式命名为HLA-A*33:03:14。Genbank注册号为HWS10017874。

Objective The objective of this paper is to identify a new HLA allele which was found in a colorectal cancer population and then to analysis its nucleotide sequence.In order to do this,Methods DNA samples were ab-stracted by using Qiagen kits,Nucleotide sequence of HLA-A、HLA-B、HLA-C、HLA-DRB1 and HLA high-resolution classification results were got by Polymerase Chain Reaction-sequence Based Typing（PCR-SBT）,and then compared it to HLA-A＊33：03：01 nucleotide sequence to analysis the similarities and differences between them.Results The re-sults show that there is a new novel allele which is high similarity with HLA-A＊33：03：01 nucleotide sequence.Com-pared to the known HLA-A＊33：03：01,there was 1 nucleotide differed from the HLA-A＊33：03：01 at position 492（T→A）,which resulting a change from GCT→GCA at codon 149.The amino acid remains the same（Ala）,which is called silent mutation.：Conclusion This new gene sequence is a HLA novel allele and has been officially named HLA-A＊33：03：14 by the WHO Nomenclature Committee.Its GeneBank accession code is HWS10017874.