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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(ALD>0,HF≥1.09×10-4,χ2>3.84),5条表现为强连锁不平衡(RLD>0.40),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(ALD>0,HF≥1.09×10-4,χ2>3.84),8条表现为强连锁不平衡(RLD>0.40),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。
Objective To investigate the allelic polymorphism, gene frequency and haplotype distribution of HLA-A, B and DRB1 loci in hematopoietic stem cell-donated volunteers in Guangxi area. Methods PCR-direct sequencing (PCR-SBT) was used to analyze HLA-A, B and DRB1 alleles of 3 431 unrelated healthy donor donors in the CMDB Guangxi sub-database. Resolution type. Results A total of 43 HLAA alleles, 80 B alleles and 42 DRB1 alleles were detected and 1507 HLA-A-B-DRB1 haplotypes were detected. A common allele with a frequency of> 0.05 includes five 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 ~ DRB1 to * 09:01, DRB1 to * 03:01, DRB1 to * 12:02, DRB1 to * 14:54, DRB1 to * Among 15 HLA-AB haplotypes, 79 haplotypes showed significant positive linkage disequilibrium (ALD> 0, HF≥1.09 × 10-4, χ2> 3.84), and 5 showed strong Among the 597 HLA-B-DRB1 haplotypes, 68 haplotypes showed a significant positive linkage disequilibrium (ALD> 0, HF≥0.4) with linkage disequilibrium (RLD> 0.40) 1.09 × 10-4, χ2> 3.84), 8 showed strong linkage disequilibrium (RLD> 0.40), and the frequencies of 16 haplotypes were higher than 0.01. Among 1 507 HLA-AB-DRB1 haplotypes, Analysis of three-seater haplotype is the most common A ~ * 33:03-B ~ * 58:01-DRB1 ~ * 03:01 (0.058 8). Conclusion HLA-A, B and DRB1 loci in Guangxi population are highly allelic to allele frequency, haplotype distribution data and related genetic parameters. It is of great value in the future development of clinical hematopoietic stem cell transplantation, Chinese population CWD formulation and bone marrow The assessment of the optimum storage capacity of the library and other related disease studies provide information about the area.