新等位基因人类白细胞抗原B＊4509的发现和确认  

Identification of a novel allele human leukocyte antigen B ＊ 4609

作　　者：陈阳 李剑平 张坤莲 章旭 刘显智 

机构地区：[1]辽宁省血液中心,沈阳110044

出　　处：《中华医学遗传学杂志》2008年第4期459-461,共3页Chinese Journal of Medical Genetics

基　　金：辽宁省自然科学基金（20062127）

摘　　要：目的鉴定一个人类白细胞抗原（htunan leukocyte antigen，HLA）新等位基因HLA-B＊4609。方法使用序列特异性寡核苷酸PCR技术进行HLA基因分型，发现反应格局异常的呵疑新等位基因，应用分子克隆和DNA双向测序技术测定新等位基因的核苷酸序列，并与已知等位基因进行序列比对分析。结果检出1个样本HLA-B位点反应格局异常，DNA测序分型结果一个为B＊151101，另一个的核苷酸序列与已知的HLA等位基因均不同，该基因序列与同源性最高的HLA-B＊460101基因序列相比，在第3外显子区域中527位碱基发生A→T突变，导致176位编码氨基酸由谷氨酸（GAG）变成缬氨酸（GTG）。结论样本中含有HLA-B新等位基因序列：该序列申报后，被世界卫生组织HLA因子命名委员会正式命名为HLA-B＊4609．Objective To identify a novel human leukocyte antigen（HLA） allele. Methods HLA typing was carried out with PCR-SSOP. Molecular cloning and DNA sequencing were used to identify the sequence of a potential novel allele and the difference between this new allele and other known alleles was analyzed. Results IRA genotyping of one sample gave different results. The sequencing results showed that the HLA B ＇alleles of the proband were B 151101 and a novel allele. The nucleotide sequence of the novel allele was different from all other known B alleles. It had one nucleotide change from the closest matching allele B ＊ 460101 at nucleotide 527（ A to T） in exon 3, resulting in an anfino acid change from E （GAG） to V（GTG） at codon 176. Conclusion A novel HLA B allele was identified and officially designated as HLA B ＊ 4609 by WHO Nomenclature Committee for Factors of the HLA System in November, 2006.

关 键 词：DNA测序分型 新等位基因 人类白细胞抗原B＊4609 

分 类 号：R686[医药卫生—骨科学]