HLA新等位基因HLA-B*35:155的确认  

Identification A Novel HLA Allele HLA-B* 35:155

作　　者：王振雷[1] 苏蔓[1] 钱明明[1] 李茵[1] 胡光磊[1] 郭霞[1] 赵佳[1] 戚海[1] 李浩 张蓓[1] 李醒[1] 何路军[1] 

机构地区：[1]河北省血液中心,石家庄050071 [2]承德市中心血站

出　　处：《临床输血与检验》2015年第2期106-108,共3页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：2012年度医学适用技术跟踪项目(No.GL2012020)资助

摘　　要：目的发现和认定一个人类白细胞抗原(HLA)新等位基因。方法应用多聚酶链式反应—基于测序的分型技术(polymerase chain reaction-sequence based typing,PCR-SBT)进行HLA常规分型,HLA-B位点分型结果与等位基因B*35:03:01,51:01:01在112位有一个碱基不匹配,不能指定为任何HLA-B位点等位基因,用针对于B*35、B*51的序列特异性SSSP引物测序,确认与同源性最高的HLA等位基因序列的差异。结果测序结果表明该等位基因与其同源性最高的等位基因B*35:03:01的差异是在第2外显子112位的C>T,其突变导致密码子CGG>TGG,结果造成B*35:03:01氨基酸序列中14位的精氨酸(R)变为色氨酸(W)。结论该等位基因为HLA-B位点的一个新等位基因,世界卫生组织(WHO)HLA命名委员会将其正式命名为HLA-B*35:155。Objective To identify a novel human leukocyte antigen（HLA）allele.Methods Polymerase chain reaction based sequencing（PCR-SBT）was used in routine HLA typing,the B locus typing results of one sample was one base mismatch with B＊35：03：01,51：01：01at locus 112,The sequence specific sequencing primers（SSSP）which target at B＊35and B＊51were used to confirm difference between the new allele and highest homologous allele.Results The sequencing results showed that the new allele with highest homologous allele B＊35：03：01was the difference in the second exon at position 112C〉T,which caused the codon mutations CGG〉TGG,resulting in an amino acid sequence of B＊35：03：01at position 14 that shifted from arginine（R）to tryptophan（W）.Conclusion This allele is a new HLA-B allele and has been designated as HLA-B＊35：155by the World Health Organization（WHO）HLA Nomenclature Committee.

关 键 词：人类白细胞抗原 PCR-SBT HLA-B 新等位基因 

分 类 号：R457.7[医药卫生—治疗学] R392.4[医药卫生—临床医学]