-
摘要: 目的:了解重庆地区干细胞捐献者HLA-A,-B,-C,-DRB1及DQB1位点基因多态性分布特征,探讨人类白细胞抗原(HLA)单倍体特征的临床意义。方法:回顾性收集2002—2019年重庆地区上传中华骨髓库干细胞捐献者HLA分型数据39 628份,使用直接计数法计算等位基因频率,利用Arlequin 3.5软件进行Hardy-Weinberg平衡检验及估算单倍型频率。结果:39 628份HLA分型数据包括高分数据12 085份、G组数据5751份、中低分数据21 792份。将基因型转化为对应的抗原特异性后,共检出HLA-A位点抗原特异性19个、HLA-B位点抗原特异性37个、HLA-C位点抗原特异性13个、HLA-DRB1位点抗原特异性15个,HLA-DQB1位点抗原特异性5个。其中,频率最高的抗原分别为HLA-A*02(30.23%)、B*40(17.29%)、C*03(23.02%)、DRB1*09(17.09%)、DQB1*03(44.97%)。12 085份高分数据中观察到HLA-A-B-DR单体型3738种,频率大于0.01的共9种。三位点单倍型中A*02:07-B*46:01-DRB1*09:01(5.34%)频率最占优势,A*33:03-B*58:01-DRB1*03:01(2.43%)次之,与大连等北方地区比较差异有统计学意义(P<0.05)。理论上在重庆骨髓库中寻找到至少1例HLA-ABDR抗原全配合供者的概率为47.95%。结论:重庆地区汉族人群HLA等位基因分布具有自身特征,目前重庆地区干细胞捐献者资料库的库容量需进一步扩充。Abstract: Objective: To understand the characteristics of HLA-A,-B,-C,-DRB1 and DQB1 gene polymorphisms of stem cell donors, and explore the clinical significance of HLA haploid characteristics.Methods: A total of 39 628 HLA typing data of stem cell donors from CMDP were collected retrospectively. Allele frequencies were calculated by direct counting method. Arlequin3.1 software was used to perform Hardy-Weinberg balance test and estimate haplotype frequency.Results: The 39 628 HLA typing data included 12 085 high resolution data, 5751 G-group data, and 21 792 middle-low resolution data. After genotypes were transformed into corresponding antigen specificity, 19 HLA-A locus phenotype specificities were identified, 37 HLA-B locus phenotype specificities were identified, 13 HLA-C locus phenotype specificities were identified, 15 HLA-DRB1 locus phenotype specificities were identified, 5 HLA-DQB1 locus phenotype specificities were identified. The highest frequency antigens were HLA-A * 02(30.23%), B* 40(17.29%), C* 03(23.02%), DRB1* 09(17.09%) and DQB1* 03(44.97%). In 12 085 high-resolution data, 3738 haplotypes of HLA-A-B-DR were observed, of which 9 frequencies were greater than 0.01, the highest frequencies haplotypes were A* 02: 07-B* 46: 01-DRB1 * 09: 01(5.34%), followed by A* 33: 03-B * 58: 01-DRB1* 03: 01(2.43%). It was significantly different from Dalian and other northern regions(P<0.05). In theory, the probability of finding at least one HLA-ABDR matched donor in Chongqing marrow bank was 47.95%.Conclusion: The distribution of HLA alleles in Chongqing had its own characteristics. The stem cell donor database should be further expanded.
-
Key words:
- human leukocyte antigen /
- gene polymorphism /
- haplotype /
- linkage disequilibrium /
- CMDP
-
-
[1] 赵桐茂.寻找HLA匹配无关供者概率曲线的计算及其应用[J].中国输血杂志,2003,16(6):381-384.
[2] 王振雷,何路军,刘艳平,等.36380名河北汉族HLA供者基因多态性及其分布特征[J].中国输血杂志,2008,(3):169-171.
[3] 邵林楠,张树婷,段莹,等.大连地区汉族人群HLA-A,-B,-DRB位点基因多态性研究[J].中国免疫学杂志,2018,34(6):919-924,928.
[4] Chen J,Zheng H,Bei JX,et al.Genetic structure of the Han Chinese population revealed by genome-wide SNP variation[J].Am J Hum Genet,2009,85(6):775-785.
[5] 高乐女,吴红,游苘霞,等.7829例疑似强直性脊柱炎患者HLA-B27抗原阳性率及分型研究[J].第三军医大学学报,2020,42(12):1220-1224.
[6] 靳廷丽,刘丽萍,易志强,等.江西省艾滋病病毒感染者HLA-B*5701阳性率的研究[J].现代预防医学,2014,41(21):3987-3989.
[7] 陈璐瑶,李杨,张腾腾,等.HLA-A、-B、-C、-DRB1、-DQB1单倍型频率的临床意义[J].中华血液学杂志,2019,40(12):1026-1030.
[8] Qi J,Li Q,Lin Z,et al.Higher risk of uveitis and dactylitis and older age of onset among ankylosing spondylitis patients with HLA-B*2705than patients with HLA-B*2704in the Chinese population[J].Tissue Antigens,2013,82(6):380-386.
[9] Fallahi S,Mahmoudi M,Nicknam MH,et al.Effect of HLA-B*27and its subtypes on clinical manifestations and severity of ankylosing spondylitis in Iranian patients[J].Iran J Allergy Asthma Immunol,2013,12(4):321-330.
-
计量
- 文章访问数: 579
- PDF下载数: 241
- 施引文献: 0
下载: