CAJ | 학술논문

目的：分析江西地区骨髓捐献人群人类白细胞抗原(human leukocyte antigen，HLA)A、B、DRBl等位基因的多态性分布特征。方法应用流式-序列特异性寡核苷酸探针方法(Flow-SSO)与直接测序法(SBT)检测江西地区1927例骨髓捐献者的HLA-A、B、DRBl基因座位，采用Arlequin3．5软件计算HLA等位基因频率、单倍型频率和连锁不平衡参数等。结果低分辨状态下3个基因座分别检出17、29和12个等位基因，3个座位分布频率最高的等位基因分别是HLA-A*02(0.3064)、HLA-B*40(0．1889)和HLA-DRBl*9(0．1917),最常见的单倍型为HLA-A*02-B*46-DRBl*09(0．0721)。该人群HLA-A、B、DRBl等位基因在高分辨检测情况下分布不符合Hardy-Weinherg平衡(P＜0.05)。结论江西地区骨髓捐献人群HLA-A、B、DRBl等位基因和单倍型具有较高的遗传多态性。
목적：분석강서지구골수연헌인군인류백세포항원(human leukocyte antigen，HLA)A、B、DRBl등위기인적다태성분포특정。방법응용류식-서렬특이성과핵감산탐침방법(Flow-SSO)여직접측서법(SBT)검측강서지구1927례골수연헌자적HLA-A、B、DRBl기인좌위，채용Arlequin3．5연건계산HLA등위기인빈솔、단배형빈솔화련쇄불평형삼수등。결과저분변상태하3개기인좌분별검출17、29화12개등위기인，3개좌위분포빈솔최고적등위기인분별시HLA-A*02(0.3064)、HLA-B*40(0．1889)화HLA-DRBl*9(0．1917),최상견적단배형위HLA-A*02-B*46-DRBl*09(0．0721)。해인군HLA-A、B、DRBl등위기인재고분변검측정황하분포불부합Hardy-Weinherg평형(P＜0.05)。결론강서지구골수연헌인군HLA-A、B、DRBl등위기인화단배형구유교고적유전다태성。
Objective To investigate allelic and haplotypic polymorphisms of human leukocyte antigen (HLA) genes at A,B and DRBl loci in native Han population of Jiangxi. Methods A total of 1927 unrelated Han ethnic individuals from Jiangxi re-gions were genotyped by Flow-sequence specific olignucleotide probe (Flow-SSO) and polymerase chain reaction-sequence-based typing(PCR-SBT) for HLA-A,B and DRBl loci. Allelic and haplotypic frequencies were estimated by maximum likelihood estima-tion method (EM) using Arlequin 3.5 software. Results A total of 17, 29 and 12 alleles were observed at HLA-A,B and DRBl loci respectively.The most frequent alleles were A*02 (0.3064), B*40 (0.1889) and DRBl*9 (0.1917). The most common haplotype was A*02-B*46-DRBl*09 (0.0721). Conclusion The HLA-A,B and DRBl loci are highly polymorphic in native Han population of Jiangxi province.