基因测序鉴定新等位基因A*33：03：14

摘要

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.