中国组织工程研究

中国组织工程研究 ›› 2010, Vol. 14 ›› Issue (44): 8249-8252.doi: 10.3969/j.issn.1673-8225.2010.44.020

• 移植与基因 transplantation and gene • 上一篇    下一篇

HLA新等位基因HLA-B*5145的确认

鞠瑞青1，陈  琳1，林乾飞1，杨  帆1，韩  瑜1，焦立新1，任海波1，马秀杰2   

  1. 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
  • 出版日期:2010-10-29 发布日期:2010-10-29
  • 通讯作者: 马秀杰，硕士，副教授，吉林省白城师范学院，吉林省白城市 137000 bcmxj@163.com
  • 作者简介:鞠瑞青，女，1981年生，山东省青州市人，汉族，2004年北华大学医学院毕业，双学士，主要从事HLA组织配型及相关性研究。 jrq521_ln@163.com

Identification of a novel allele HLA-B*5145

Ju Rui-qing1, Chen Lin1, Lin Qian-fei1, Yang Fan1, Han Yu1, Jiao Li-xin1, Ren Hai-bo1, Ma Xiu-jie2   

  1. 1 Blood Center of Changchun, Changchun  130033, Jilin Province, China; 2 Baicheng Normal University, Baicheng  137000, Jilin Province, China
  • Online:2010-10-29 Published:2010-10-29
  • Contact: Ma Xiu-jie, Master, Associate professor, Baicheng Normal University, Baicheng 137000, Jilin Province, China
  • About author:Ju Rui-qing, Blood Center of Changchun, Changchun 130033, Jilin Province, China jrq521_ln@163.com

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362

被引次数

21

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。

关键词: 等位基因, HLA-B*5145, PCR-SSO分型, 序列分析, 器官移植

Abstract:

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 A*02XX, A*33XX; HLA-DRB1 locus genotypes were DRB1*1202, DRB1*1302, but the pattern of HLA-B locus showed abnormal reaction, which can not identified any HLA-B alleles, HLA tools suggested that “B*44XX, B*53XX; 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-B*5106. It differed from the allele HLA-B*5106 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-B*5145 by the Nomenclature Committee for Factors of the HLA System in World Health Organization in October 2006.

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