新等位基因HLA-B*40:162测序分析及确认  

Sequencing Analysis and Identification of A Novel HLA-B*40:162 Allele

作　　者：杜占慧 胡彬 冯智慧 焦淑贤 吴振军[2] 

机构地区：[1]青岛市中心血站输血医学研究所,山东青岛266071 [2]青岛市市立医院,山东青岛266011

出　　处：《中国实验血液学杂志》2014年第1期192-194,共3页Journal of Experimental Hematology

基　　金：青岛市科技发展计划基金资助项目(10-3-3-1-9nsh)

摘　　要：本研究旨在识别并确认中国人群中HLA-B位点的一个新等位基因。应用PCR-SBT对中华骨髓库供者样本进行HLA分型,对可能的HLA-B新等位基因利用组序列特异性引物(GSSP)及单链测序基因分型技术进行测序,并与已知同源性最高的等位基因进行序列比对,分析二者差异。结果发现,有1个样本的HLA-B位点与目前已知的HLA-B基因序列均不一致,与其同源性最高的B*40:06:01的差异表现在第2外显子272位碱基由C>T,导致第67位密码子由丝氨酸变为苯丙氨酸。结论:确认该基因为HLA-B位点的1个新等位基因,已经被WHO HLA因子命名委员会正式命名为HLA-B*40:162。The aim of this study was to identify a novel HLA-B allele in Chinese population.The HLA typing of bone marrow donors was performed by PCR-SBT.The ambiguous novel HLA allele was confirmed with GSSP and single stranded SBT method.The result indicated that there was a sample,the sequence of which was different from all alleles in the HLA databases.The sequence analysis showed that it differed from the closet matching allele B ＊ 40∶06∶01 in one nucleotide substitution,272 C ＞ T in Exon 2,which resulted in an amino acid change from Serine （Ser） to Phenylalanine （Phe） at codon 63.It is concluded that the novel allele has been identified and is named HLA-B ＊ 40 ∶ 162 by the WHO Nomenclature Committee.

关 键 词：HLA 新等位基因 HLA-B＊40 162 组序列特异性引物 单链测序 

分 类 号：R457.1[医药卫生—治疗学]