3238名江苏汉族造血干细胞捐献者HLA-A、B、DRBl位点高分辨基因分型结果的研究  

Study on the analysis of high-resolution HLA-A, B and DRB1 alleles from 3238 hematopoietic stem cell donors in Jiangsu Han Chinese

作　　者：潘猛[1] 赵星[1] 潘琴琴[2] 樊甦[1] 王晓艳[1] 汪承亚[1] 沈捷[1] 

机构地区：[1]南京医科大学第一附属医院,210029 [2]江苏省人民医院HLA组织配型实验室

出　　处：《中华血液学杂志》2012年第2期94-97,共4页Chinese Journal of Hematology

基　　金：中华造血干细胞捐献志愿者资料库经费资助

摘　　要：目的分析中国江苏地区汉族人群造血干细胞捐献志愿者的HLA-A、B、DRBl位点在高分辨基因分型水平上的基因多态性、单倍型分布特征以及常见与罕见等位基因的分布。方法大量应用基因序列分型技术和少量应用聚合酶链反应一序列特异性寡核苷酸探针技术对中华造血干细胞捐献志愿者资料库江苏分库3238名无关供者的HLA-A、B、DRBl位点等位基因作高分辨分型。结果HLA-A基因46个，HLA-B基因85个，HLA-DRBl基因51个。HLA-A位点频率最高的是A＊11：01（16．52％），HLA-B位点为B＊13：02（11．60％），HLA-DRBl位点为DRBl＊07：01（15．78％）。单倍型频率最高是A＊30：01-B＊13：02-DRBl＊07：01（8．87％）。HLA-A位点常见等位基因（CWD）种类有40种，在样本中的含量达到99．8％，HLA-B位点CWD则有77种（99．5％），HLA-DRBl位点的CWD有47种（99．8％），并发现少量在中国人群未报道的罕见基因。结论本资料从高分辨水平反映了江苏地区汉族人群HLA的分布状况。对指导临床寻找HLA匹配的无关造血干细胞供者，HLA与疾病相关研究和我国人群群体遗传学研究等有重要意义。Objective To analyze the genetic polymorphism, distribution of haplotypes, common and well-documented （CWD） and rare alleles of high-resolution HLA-A, B and DRB1 alleles by analysis from hematopoietic stem cell （HSC） donors in Jiangsu Han Chinese. Methods PCR-sequence-based typing and PCR-sequence specific oligonucleotide prebes methods were applied for HLA-A,B and DRB1 high-resolution genotyping of 3238 unrelated healthy donors of hematopoietic stem cells in Jiangsu branch of Chinese National Marrow Donor Program registry. Results 46 alleles of HLA-A,85 HLA-B and 51 HLA-DRB1 locus were found. The frequencies of the most common alleles were A ＊ 11 ： 01 （ 16.52% ） , B ＊ 13： 02（ 11.60% ） and DRB1 ＊ 07：01 （ 15.78% ）. That of the most common haplotype was A ＊ 30： 01-B ＊ 13 ： 02-DRB1 ＊ 07 ： 01 （ 8.87% ）. 40 alleles of HLA-A,77 alleles of HLA-B, and 47 HLA-DRB1 alleles of HLA-DRB1 were CWD, which account for 99.8% of total number of samples, and a few rare alleles not reported in Chinese popula- tion were found. Conclusion The results of high-resolution, CWD and rare alleles showed the characteristics of HLA distribution in Jiangsu Han population, which may be useful for finding HLA matched unrelated do- nors, as well as for HLA correlation with population genetics and disease association studies.

关 键 词：HLA抗原 基因型 基因频率 等位基因 

分 类 号：R440[医药卫生—诊断学]