广西造血干细胞骨髓库HLA-A、B、DRB1高分辨等位基因多态性研究

发布时间：2018-11-23 19:03

【摘要】：目的研究广西地区人群造血干细胞捐献志愿者的HLA-A、B、DRB1位点在高分辨水平上的等位基因多态性、基因频率及单体型分布特征。方法应用PCR-直接测序法(PCR-SBT)对中国造血干细胞捐献者资料库(CMDP)广西分库,3 431名无个体血缘关系健康供者的HLA-A、B、DRB1等位基因进行高分辨分型。结果共检出HLAA等位基因43个,B等位基因80个和DRB1等位基因42个,HLA-A-B-DRB1单体型检测到1507种。其中频率0.05的常见等位基因,包括5种HLA-A∶A~*11∶01,A~*24∶02,A~*02∶03,A~*02∶07,A~*33∶03;6种HLA-B∶B~*46∶01,B~*40∶01,B~*15∶02,B~*58∶01,B~*13∶01,B~*38∶02;7种HLA-DRB1∶DRB1~*15∶01,DRB1~*16∶02,DRB1~*09∶01,DRB1~*03∶01,DRB1~*12∶02,DRB1~*14∶54,DRB1~*15∶02。487条HLA-A-B单体型中,79条单体型呈现显著的正连锁不平衡(ALD0,HF≥1.09×10-4,χ23.84),5条表现为强连锁不平衡(RLD0.40),18条单体型的频率0.01;597条HLA-B-DRB1单体型中,68条单体型呈现显著的正连锁不平衡(ALD0,HF≥1.09×10-4,χ23.84),8条表现为强连锁不平衡(RLD0.40),16条单体型的频率高于0.01;1 507条HLA-A-B-DRB1单体型中,统计分析三座位单体型最常见的是A~*33∶03-B~*58∶01-DRB1~*03∶01(0.058 8)。结论广西地区人群HLA-A、B、DRB1位点在高分辨水平上获得等位基因频率、单体型分布数据及相关遗传参数,为今后开展临床造血干细胞移植、中国人群CWD表的制订和骨髓库最适库容的评估等研究及相关疾病研究提供本地区信息。
[Abstract]:Objective to study the allelic polymorphism, gene frequency and haplotype distribution of the HLA-A,B,DRB1 locus at the high resolution level in the donor volunteers of hematopoietic stem cells in Guangxi. Methods PCR- direct sequencing (PCR-SBT) was used to type the HLA-A,B,DRB1 alleles in the (CMDP) Guangxi sublibrary of Chinese hematopoietic stem cell donor database and 3 431 unrelated healthy donors. Results there were 43 HLAA alleles, 80 B alleles and 42 DRB1 alleles. 1507 HLA-A-B-DRB1 haplotypes were detected. Common alleles with frequency 0. 05, including 5 HLA-A:A~*11:01,A~*24:02,A~*02:03,A~*02:07,A~*33:03; Six HLA-B:B~*46:01,B~*40:01,B~*15:02,B~*58:01,B~*13:01,B~*38:02; Among 7 HLA-DRB1:DRB1~*15:01,DRB1~*16:02,DRB1~*09:01,DRB1~*03:01,DRB1~*12:02,DRB1~*14:54,DRB1~*15:02.487 HLA-A-B haplotypes, 79 haplotypes showed significant positive linkage disequilibrium (ALD0,HF 鈮，

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