河南省骨髓库汉族捐献者HLA-A、B、DR高分辨基因多态性调查分析

HLA-A, B and DR high-resolution gene polymorphism of Henan Stem Cell Registry

背景:2009年开始,中华骨髓库加大HLA高分检测的力度,可缩短配型检索周期,提高配型成功率。目的:统计分析河南省骨髓捐献者HLA-A、B、DRB1高分辨基因多态性。方法:河南省汉族造血干细胞志愿捐献者血样3874人份,志愿捐献静脉血,EDTA抗凝。采用SSOHD荧光微珠流式高分辨HLA-A、B、DRB1基因分型检测方法,对3874份骨髓捐献志愿者血样进行高分辨分型检测,用PCR-SSP高分辨检测、SBT检测解决存在的模棱两可问题。等位基因计数法计算等位基因的基因频率。结果与结论:共检出A34个,B84个,DRB150个,A位点基因频率处于前5位的有A*0201(0.1609)、A*1101(0.1627)、A*2402(0.1602)、A*3001(0.0808)、A*3303(0.0789);B位点处于前5位的是B*1302(0.0777)、B*4001(0.0722)、B*5101(0.0628)、B*4601(0.0612)和B*0702(0.0507);DRB1位点处于前5位的是DRB1*1501(0.1469)、DRB1*0901(0.1318)、DRB1*0701(0.1211)、DRB1*1202(0.0612)、DRB1*0405(0.0582)。

BACKGROUND：Since 2009, Chinese Marrow Donor Program takes more efforts in high resolution HLA typing, shortens typing retrieval time and increases the success rate of HLA typing. OBJECTIVE：To statistically analyze HLA-A, B, DRB1 high-resolution gene polymorphism in bone marrow donors from Henan Province, China.METHODS：A total of 3 874 venous blood samples were collected from the volunteer donors and subjected to ethylenediamine tetraacetic acid anticoagulation. The blood samples were detected using PCR-SSO HD high-resolution HLA typing method （LABType~HD, Onelambda USA）. The SSP and SBT detection tests were performed to solve ambiguity. Allele frequency was calculated with the direct count method. RESULTS AND CONCLUSION：A total of 168 alleles were detected, 34 of which were for HLA-A, 84 for B, and 50 for DRB1. The top five loci for each was A＊0201（0.160 9）, A＊1101 （0.162 7）, A＊2402（0.160 2）, A＊3001（0.080 8）, A＊3303 （0.078 9）; B＊1302（0.077 7）, B＊4001（0.072 2）, B＊5101（0.062 8）, B＊4601（0.061 2）, B＊0702（0.050 7）; DRB1＊1501（0.146 9）, DRB1＊0901（0.131 8 ）, DRB1＊0701（0.121 1）, DRB1＊1202（0.061 2）, DRB1＊0405（0.058 2）.