吉林骨髓库汉族造血干细胞捐献者HLA-A、B、DRB1基因分布和单体型分析  

The frequencies of HLA-A、B、DRB1 allels and Haplotype and their distribution among haemopoietic stem cell of Han volunteers in Jilin bone marrow library of China

作　　者：陈琳[1] 焦立新[1] 任海波[1] 林乾飞 韩瑜[1] 门小菲 于江虹[1] 

机构地区：[1]吉林省血液中心,吉林长春130033

出　　处：《中国输血杂志》2010年第1期35-39,共5页Chinese Journal of Blood Transfusion

摘　　要：目的了解中国造血干细胞捐献者资料库吉林分库HLA基因及单体型分布特征。方法采用PCR-SSP、PCR-SSO和PCR-SBT法对吉林分库内10 120份吉林籍汉族捐献者HLA-A、B、DRB1基因低分辨分型,用Excel软件计算HLA基因频率、单倍型频率及其连锁不平衡参数。结果吉林分库内汉族捐献者的HLA-A、B、DRB1基因(含血清学特异性)分别有21、45、13种,频率高的基因是:A*02、A*24、A*11、A*30,B*13、B*60、B*61、B*62、B*35、B*46、B*51,DR*01、DR*03、DR*04、DR*07、DR*09、DR*12、DR*15。HLA单体型分布,两座位连锁频率较高的有:A30-B13、A02-B46、A02-B61、A02-B58,B13-DR07、B13-DR12、B46-DR09、B61-DR09,A2-DR09、A30-DR07、A02-DR12、A02-DR15;三座位连锁频率较高的是:A30-B13-DR07、A02-B46-DR09、A02-B13-DR12、A02-B61-DR09。结论为临床造血干细胞移植寻找合适匹配的供受对,以及吉林地区汉族人群HLA基因多态性与HLA相关疾病的研究提供了有意义的参照数据。Objective To understand the distribution characteristics of HLA gene and haplotype in Jilin marrow library. Methods Using PCR-SSP.PCR-SSO.PCR-SBT to perform low resolution genotyping of on 10 120 volunteers and calculate HLA gene frequency, haplotype analysis and linkage disequilibrium parameter with Excel. Results In Jilin bone marrow library, HLA-A.B.DRB1 gene are 21,45,13 species respectively, high frequency genes are： A＊ 02.A ＊ 24.A ＊ 11. A＊ 30;B＊ 13.B＊ 60.B＊ 61 .B＊ 62,B＊ 35.B＊ 46.B＊ 51 ; DR＊ 01 .DR＊ 03.DR＊ 04.DR＊ 07.DR＊ 09.DR＊ 12.DR＊ 15. In haplotype distribution two seat linkages with higher frequency are A30-B13 .A02-B46 .A02-B61 .AO2-B58 ,B13-DR07 .B13- DR12 ,B46-DR09.B61-DR09, A2-DRO9,A30-DR07 .AO2-DR12 .AO2-DR15 ; three seat linkages with higher frequency are A30-B13-DRO7.AO2-B46-DRO9.AO2-B13-DR12.AO2-B61-DR09. Conclusion This investigation will conduce to in finding suitable matching supplly-reception donor recipient couple and provide significant reference data for HLA related diseases and Han ethnic group gene polymorphism in Jilin.

关 键 词：HLA基因频率 连锁不平衡 HLA单倍型 造血干细胞 汉族捐献者 吉林 中华骨髓库 

分 类 号：R457.11[医药卫生—治疗学]