四川骨髓库汉族人群HLA-B^＊15等位基因分布  

HLA-B*15 diversity in Sichuan Han population

作　　者：罗玫[1] 陈强[1] 陈雪黎[1] 王珏[1] 邹海 徐晓红[1] 梁智恒[1] 陈静娴[1] 郑忠伟[1] 

机构地区：[1]中国医学科学院北京协和医学院输血研究所,四川成都610081 [2]四川省脐血干细胞库

出　　处：《中国输血杂志》2008年第5期352-356,共5页Chinese Journal of Blood Transfusion

摘　　要：目的采用聚合酶链反应-序列分析基础上的HLA分型(polymerase chain reaction-sequence based typ-ing,PCR-SBT)方法,研究中国造血干细胞捐献者资料库(以下简称为中华骨髓库,CMDP)四川分库中四川籍汉族人群HLA-B*15组等位基因的分布特点。方法从四川骨髓分库中汉族人群中/低分辨分型HLA-B*15阳性样本中按不同血清学特异性分层抽取107例样本,应用PCR-SBT技术进行测序分型,获得四川籍汉族人群B*15组高分辨分型结果。应用方根法计算HLA-B*15各等位基因频率,同时与其他人群资料进行比较。结果共检测到16种已知HLA-B*15等位基因和1例未知等位基因。本研究中检出的16种等位基因有:B*15010101(B62),B*1502(B75),B*1503(B72),B*1505(B62),B*1507(B62),B*151101(B75),B*1512(B76),B*1513(B77),B*1517(B63),B*1518(B71),B*1525(B62),B*1527(B62),B*1529(B15),B*1532(B62),B*1546(B72),B*1558(B62)。其中以B*1502(36.2%)最常见,其次为B*15010101(21.6%),B*151101(9.5%),B*1518(6.9%),B*1525(6.0%),这5种等位基因占B*15等位基因家族的80%。在B*15等位基因家族中,表达B75抗原的等位基因B*1502和B*151101共占45.7%,但表达B62抗原的B*15等位基因多态性最强,共检出7种等位基因。此外,本研究发现1例未知等位基因,该等基因序列与目前所有已知的B*15或B*46等位基因序列均不相同,在外显子3的116位处存在1个点突变C->T。结论研究表明在四川籍汉族人群中HLA-B*15等位基因水平表现出丰富的多态性和特有的分布特征。Objective To investigate the allele distribution of HLA-B^＊15 gene family in Sichuan Han population . Methods A total of 107 B^＊15-positive samples were selected from 8934 Sichuan Han individuals from Sichuan Umbilical Cord Blood Bank （CMDP）, based on their HLA-B types determined by PCR-SSP or PCR-SSO using commercial typ- ing kits. PCR-SBT was applied to determine HLA-B^＊15 allele typing. Allele frequencies were analyzed by square root method. And the chi-square values of allele frequencies from different populations were also analyzed. Results A total of 16 different HLA-B^＊ 15 alleles and a novel or unknown HLA-B^＊ 15 allele were identified. B^＊ 1502 （ 36.2%） was the most frequent allele, foUowed by B^＊ 15010101 （21.6%）, B^＊ 151101 （ 9.5% ）, B^＊ 1518 （ 6.9% ）, B^＊ 1525 （ 6.0% ）, which comprised more than 80% of all the B^＊15-positive samples. In the 1362 serologic group, seven alleles were identi- fied, including B^＊ 15010101 ,B^＊ 1505,B^＊ 1507,B^＊ 1525,B^＊ 1527,B^＊ 1532,B^＊ 1558. In the B75 serologic group, B^＊ 1502 and B^＊ 151101 were identified in the study samples and B^＊ 1502 was predominant. In addition, there was a novel or unknown HLA-B^＊ 15 or B^＊ 46 in our study. Its sequence differed from all known HLA-B^＊ 15 or B^＊ 46 allele sequences by a single 116 C- 〉 T substitution in exon 3. Further research is required to identify this unknown allele. Con- clusion Our study demonstrates the high diversity of B^＊ 15 in the Sichuan Han population.

关 键 词：HLA 等位基因 SBT 高分辨分型 基因多态性 

分 类 号：R457.1[医药卫生—治疗学]