江苏地区骨髓库志愿者HLA-B^＊15组基因多态性研究及临床意义

Analysis of HLA-B*15 gene polymorphism of registered bone marrow from donors in Jiangsu and its clinical significance

目的:调查江苏骨髓库志愿者HLA-B*15等位基因的分布特征,研究其可能对临床供体选择的影响以及相关疾病。方法:利用聚合酶链反应-碱基序列直接测序(PCR-SBT)方法对3 238例江苏人群HLA-B位点的2、3、4外显子序列进行分型,计算HLA-B*15等位基因频率,并与不同人群进行比较。结果:本研究中检出的21种HLA-B*15等位基因有:B*1501(B62),B*1502(B75),B*1503(B72),B*1505(B62),B*1507(B62),B*1508(B75),B*1510(B71),B*1511(B75),B*1512(B76),B*1513(B77),B*1517(B63),B*1518(B71),B*1521(B75),B*1525(B62),B*1527(B62),B*1529(B15),B*1532(B62),B*1535(B62),B*1546(B72),B*1558(B62),B*1568(B35)。其中以B*1501(4.69%)最常见,其次为B*1511(2.55%),B*1502(2.10%),B*1518(1.34%),B*1527(1.27%)。结论:在江苏汉族人群中HLA-B*15等位基因水平表现出丰富的多态性,利用其分布特点,为临床移植供者选择和HLA相关疾病分析提供了依据。

Objective：To investigate the characteristics of the allele distribution of HLA-B^＊15 gene family in Jiangsu population,then to study its influence on the selection of clinical transplantation donor and HLA related diseases.Methods：A total of 3 238 cord blood samples from Jiangsu Cord Blood Bank were analyzed by sequence-based typing.Then the sequences encompassing exon 2,3,and 4 for HLA-B gene were typed by direct sequencing of PCR products.The gene frequencies distribution of HLA-B in this popula-tion was compared with that in other populations.Results：A total of 21 different HLA-B^＊15 alleles were detected： B^＊1501（B62）,B^＊ 1502（B75）,B^＊1503（B72）,B^＊1505（B62）,B^＊1507（B62）,B^＊1508（B75）,B^＊1510（B71）,B^＊1511（B75）,B^＊1512（B76）,B^＊1513（B77）,B^＊1517（B63）,B^＊1518（B71）,B^＊1521（B75）,B^＊1525（B62）,B^＊1527（B62）,B^＊1529（B15）,B^＊1532（B62）,B^＊1535（B62）,B^＊ 1546（B72）,B^＊1558（B62） and B^＊1568（B35）.A total of 21 different HLA-B^＊15 alleles were identified.B^＊1501（4.69%） was the most frequent allele,followed by B^＊1511（2.55%）,B^＊1502（2.10%）,B^＊1518（1.34%）,B^＊1527（1.27%）.Conclusion：Our study demonstrates the high diversity of HLA-B^＊15 in the Jiangsu population,which shows direct significance for the selection of trans-plantation donor,the diagnosis and treatment the HLA related diseases.