HLA新等位基因HLA-B~＊5145的确认  

Identification of a novel allele HLA-B~＊5145

作　　者：鞠瑞青 陈琳[1] 林乾飞 杨帆[1] 韩瑜[1] 焦立新[1] 任海波[1] 马秀杰[2] 

机构地区：[1]长春市中心血站,吉林省长春市130033 [2]吉林省白城师范学院,吉林省白城市137000

出　　处：《中国组织工程研究与临床康复》2010年第44期8249-8252,共4页Journal of Clinical Rehabilitative Tissue Engineering Research

摘　　要：背景:作者在用美国onelamba试剂公司生产的HLA低分辨试剂进行分型实验时,将反应结果导入HLA数据分析软件,发现HLA-B位点反应格局异常,且阴性磁珠和阳性磁珠反应情况良好,但是分析软件并未给出相应结果,怀疑有新基因的可能。目的:发现和认定1个HLA新等位基因。方法:采集中华骨髓库造血干细胞捐献者血样,应用PCR-SSO基因分型技术筛选可能的新等位基因,PCR产物测序和DNA基因克隆测序,分析基因序列。结果与结论:PCR-SSO基因分型显示,供者HLA-A位点基因型为A*02XX,A*33XX;HLA-DRB1位点基因型为DRB1*1202,DRB1*1302,HLA-B位点反应格局异常,不能指定任何HLA-B位点的等位基因,提示B*44XX,B*53XX;90FN,91FP,调整不合理,故进一步用其他试剂(Dynal,PCR-SSO)分型方法进行分析,也显示无法判定的结果。等位基因HLA-B*5145是HLA-B*5106的变异体,该基因和B*5106的差异在第3外显子的339位碱基A→G,引起相应编码氨基酸113位上的N(天冬酰胺,Asn)→D(天冬氨酸,Asp),346位碱基A→C,引起相应编码氨基酸115位上的Y(酪氨酸,Tyr)→S(丝氨酸,Ser),362位碱基A→G,则不引起相应编码氨基酸120位上的K(赖氨酸,Lys)的变化。该基因为新等位基因,2006-10被世界卫生组织HLA因子命名委员会正式命名HLA-B*5145。BACKGROUND：When the authors performed classification experiments using human leucocyte antigen reagent （HLA reagent, onelamba company, USA） and imported the HLA data into the analysis software, an abnormal reaction pattern was found at HLA-B locus with normal reactions of negative and positive magnetic beads.Thus, it is suspect that a novel gene existed.OBJECTIVE：To identify a novel HLA-B allele.METHODS：The blood samples were collected from China Bone Marrow Bank, and screened using PCR-SSO genotyping methods to search possible existed novel allele based on Luminex platform and sequencing-based typing （SBT）.RESULTS AND CONCLUSION：PCR-SSO genotyping showed that HLA-A locus genotypes were A02XX, A33XX; HLA-DRB1 locus genotypes were DRB11202, DRB11302, but the pattern of HLA-B locus showed abnormal reaction, which can not identified any HLA-B alleles, HLA tools suggested that ＂B44XX, B53XX; 90FN, 91FP＂, using other reagents （Dynal, PCR-SSO） genotyping method to analyze, also showed no result.SBT result indicated the novel allele is the variant of allele HLA-B5106.It differed from the allele HLA-B5106 by three nucleotide substitution at position 339 where A→G resulting in a coding change 113 N to D, at position 346 where A→C resulting in a coding change 115 Y to S, but at position 362 where A→G doesn＇t result any change in exon 3.The sequence has been designated HLA-B5145 by the Nomenclature Committee for Factors of the HLA System in World Health Organization in October 2006.

关 键 词：等位基因 HLA-B＊5145 PCR-SSO分型 序列分析 器官移植 

分 类 号：R617[医药卫生—外科学]