PCR-SSP基因分型技术检出HLA-B新等位基因B＊5516一例  

Detection of a novel allele HLA-B 5516 using PCR-SSP genotyping technique

作　　者：陈强[1,2] 王憬惺[1,2] 孙水仙 邹海[2] 徐晓红 陈宪辉[1,2] 米新玉[1] 陈雪黎[1] 曾洁[1] 赵桐茂[3] 

机构地区：[1]中国医学科学院输血研究所,四川成都610081 [2]四川省脐带血库造血干细胞库 [3]美国国立卫生研究院

出　　处：《中国输血杂志》2003年第5期303-306,共4页Chinese Journal of Blood Transfusion

摘　　要：目的　识别确认中国人群的HLA新等位基因。方法　使用PCR SSP以及以测序为基础的分型技术 ,分析HLA新等位基因和B 5 5 0 2基因顺序的差异及血清学方法分析特异性。结果　在四川成都骨髓供者中检测出一例新的HLA B等位基因。该基因和B 5 5 0 2基因顺序的差异 ,只是在外显子 2区域中 97C >A一个碱基取代 ,导致相应的密码子 33由酪氨酸变为组氨酸。血清学分析表明B 5 5 16与B2 2特异性相关。并由此建立起PCR SSP方法鉴定B 5 5 16基因。结论　四川成都骨髓库中检出的HLA B等位基因是HLA新等位基因 ,2 0 0 3年 8月已被世界卫生组织 (WHO)命名为HLA B 5 5 16。在大约 14 0 0例随机骨髓供者中 ,未发现其他带有B 5 5 16基因的个体。Objective To identify HLA novel allele in Chinese population.Methods A new HLA-Ballele was initially detected by an unusual PCR-SSP reaction pattern in a potential bone marrow donor.Molecular cloning and sequencing were used to identify the difference between the new allele and HLA-B 5502 allele.Results The B 5516 allele differs from the closest matching HLA sequence of B 5502 by a single nucleotide substitution of T>C at position 97 in exon 2,resulting in an amino acid change from Tyr (TAC) to His (CAC) at codon 33. Serology study revealed that B 5516 is associated with B22 specificity. A PCR-SSP method was developed to distinguish B 5516 from other B 55 alleles.Conclusions A novel HLA-Ballele,B 5516,has been identified in a potential bone marrow donor using PCR-SSP genotyping technique.No further individuals with B 5516 were detected in 1,400 Chinese bone marrow blood donors.

关 键 词：HLA-B^＊5516基因 克隆 HLA-B 等位基因 PCR-SSP 基因分型 点突变 人类白细胞抗原 

分 类 号：R392.2[医药卫生—免疫学]