人类白细胞抗原新等位基因B＊55：35的鉴定及家系调查  

Identification of a novel HLA allele HLA-B ＊ 55 ： 35

作　　者：宋永红[1] 毛永鑫[1] 董魁[1] 陈晓健 谷彦霞 朱传福 

机构地区：[1]山东省血液中心,中华骨髓库山东组织配型实验室,济南250014 [2]临沂市中心血站

出　　处：《中华医学遗传学杂志》2013年第2期168-171,共4页Chinese Journal of Medical Genetics

基　　金：山东省医药卫生科技发展计划重点项目（2009HD018）

摘　　要：目的鉴定人类白细胞抗原（human leukocyte antigen，HLA）基因B位点的1个新等位基因并调查其遗传情况。方法应用聚合酶链反应一序列特异性寡核苷酸探针（polymerase chain reactionsequence specific oligonucleotide probe,PCR-SSOP）HLA分型技术发现1个疑似的新HLA等位基因，通过DNA测序鉴定其序列，并与同源性最高的HLA基因进行核苷酸序列比对，对携带者家系进行调查。结果应用PCR-SSOP进行HLA基因分型时，该样本HLA—B位点反应格局异常。DNA序列分析证实其为1个新HLA—B等位基因。与同源性最高的等位基因B＊55：02比较，在第2外显子区域中有7个碱基发生改变，导致6个密码子发生了变化，造成2个氨基酸改变，即第69位的氨基酸由谷氨酸（Glu）变为甲硫氨酸（Met）、第70位的氨基酸由谷氨酸（Glu）变为丙氨酸（Ala）。结论发现并鉴定了HLA—B位点的1个新等位基因，GenBank注册号为FJ898284，被世界卫生组织HLA因子命名委员会正式命名为HLA-B＊55：35。Objective To identify a novel human leukocyte antigen （HLA） B allele and explore its family heritage. Methods A novel HLA allele was suspected upon routine HLA typing using a polymerase chain reaction-sequence specific oligonucleotide probe （PCR-SSOP） assay. The sequence was confirmed with DNA sequencing and compared with its closest matching allele, B ; 55： 02. The family was also investigated. Results An unusual reaction pattern was detected during routine HLA typing. The sequence was confirmed to be a new HLA-B allele, which differed from the closest matching allele, B ; 55：02, in 7 nt positions in exon 2. Among the 7 mutations from 6 codons, there were two amino acids changes including 69Glu→Met and 70Glu→Ala. Conclusion A novel HLA-B allele has been identified and officially named as B ＊ 55：35 by the WHO Nomenclature Committee for Factors of the HLA System （GenBank accession number FJ898284）.

关 键 词：人类白细胞抗原 基因分型 新等位基因 家系调查 

分 类 号：R[医药卫生]