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单中心山东汉族肾移植受者HLA-AHLA-BHLA-CHLA-DRB1HLA-DQB1等位基因分布及单体型多态性分析
邵长峰1,孔艺蓉2,王立钦1,王 蓉1,鞠 强1,陈淑敏1,王海燕1
1.青岛大学附属医院输血科,青岛 266003;2.青岛市市立医院检验科,青岛 266003
摘要:
[摘要] 目的 分析单中心山东汉族肾移植受者HLA-AHLA-BHLA-CHLA-DRB1HLA-DQB1等位基因分布及单体型多态性特点,获取肾移植人群人类白细胞抗原(HLA)遗传学参数。方法 选择2019年6月至2022年12月于青岛大学附属医院进行HLA-AHLA-BHLA-CHLA-DRB1HLA-DQB1等位基因检测的1 470例肾移植受者。采用序列特异性寡核苷酸探针-聚合酶链反应法进行HLA等位基因检测。采用直接计数法计算HLA等位基因频率,对各等位基因位点进行Hardy-Weinberg平衡检验。采用Arlequin 3.5.2.2软件计算常见单体型频率。结果 1 470例患者中共检测到216个等位基因,其中HLA-AHLA-BHLA-CHLA-DRB1HLA-DQB1分别检出等位基因数量为36、86、33、40、21个。HLA-AHLA-BHLA-C等位基因的观察值与期望值比较差异无统计学意义(P>0.05),HLA-DRB1HLA-DQB1等位基因的观察值与期望值比较差异有统计学意义(P<0.05)。HLA-AHLA-B单体型452对,HLA-BHLA-C单体型219对,HLA-AHLA-BHLA-C单体型666对,HLA-BHLA-DRB1单体型551对,HLA-DRB1HLA-DQB1单体型91对,HLA-AHLA-BHLA-CHLA-DRB1单体型1 367对,HLA-AHLA-BHLA-CHLA-DRB1HLA-DQB1单体型1 434对。HLA-A*30:01~HLA-B*13:02~HLA-C*06:02~HLA-DRB1*07:01~HLA-DQB1*02:02单体型频率最高。结论 山东汉族肾移植受者中HLA-A*30:01~HLA-B*13:02~HLA-C*06:02~HLA-DRB1*07:01~HLA-DQB1*02:02单体型频率最高,该研究为供者等位基因检索以及受者人群遗传学研究提供了参考。
关键词:  人类白细胞抗原  肾移植  等位基因  单体型
DOI:10.3969/j.issn.1674-3806.2025.01.13
分类号:R 699.2
基金项目:山东省输血协会科研基金项目(编号:2024-sdsx09)
Analysis on the allelic distribution and haplotype polymorphism of HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1 in the renal transplantation recipients of a single-center Han population in Shandong
SHAO Changfeng1, KONG Yirong2, WANG Liqin1, WANG Rong1, JU Qiang1, CHEN Shumin1, WANG Haiyan1
1.Department of Blood Transfusion, the Affiliated Hospital of Qingdao University, Qingdao 266003, China; 2.Department of Clinical Laboratory, Qingdao Municipal Hospital, Qingdao 266003, China
Abstract:
[Abstract] Objective To analyze characteristics of the allelic distribution and haplotype polymorphism of HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1 in the renal transplantation recipients of a single-center Han population in Shandong, and to obtain human leukocyte antigen(HLA) genetic parameters of the kidney transplant population. Methods A total of 1 470 renal transplantation recipients who underwent allele detection of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 in the Affiliated Hospital of Qingdao University from June 2019 to December 2022 were selected. The method of polymerase chain reaction-sequence specific oligonucleotide probe(PCR-SSOP) was used for allele detection of HLA. The frequency of HLA alleles was calculated by using direct counting method, and Hardy-Weinberg equilibrium test was performed for the loci of each allele. The common haplotype frequencies were calculated by using Arlequin 3.5.2.2 software. Results A total of 216 alleles were detected in the 1 470 patients, among which 36, 86, 33, 40 and 21 alleles were detected in HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1, respectively. There were no significant differences between the observed values of HLA-A, HLA-B and HLA-C alleles and the expected values of HLA-A, HLA-B and HLA-C alleles(P>0.05). There were significant differences between the observed values of HLA-DRB1 and HLA-DQB1 alleles and the expected values of HLA-DRB1 and HLA-DQB1 alleles(P<0.05). There were a total of 452 haplotype pairs of HLA-A-HLA-B, 219 haplotype pairs of HLA-B-HLA-C, 666 haplotype pairs of HLA-A-HLA-B-HLA-C, 551 haplotype pairs of HLA-B-HLA-DRB1, 91 haplotype pairs of HLA-DRB1-HLA-DQB1, 1 367 haplotype pairs of HLA-A-HLA-B-HLA-C-HLA-DRB1, and 1 434 haplotype pairs of HLA-A-HLA-B-HLA-C-HLA-DRB1-HLA-DQB1. HLA-A*30:01-HLA-B*13:02-HLA-C*06:02-HLA-DRB1*07:01-HLA-DQB1*02:02 haplotype frequency was the highest. Conclusion HLA-A*30:01-HLA-B*13:02-HLA-C*06:02-HLA-DRB1*07:01-HLA-DQB1*02:02 haplotype frequency is the highest in the renal transplantation recipients of the Han population in Shandong. This study provides a reference for donor allele search and recipient population genetics research.
Key words:  Human leukocyte antigen(HLA)  Renal transplantation  Allele  Haplotype