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目的:探讨山东滨州地区汉族造血干细胞(HSC)捐献志愿者中人类白细胞抗原(n HLA)-n A、-n B、-n DRB1高分辨等位基因及其单体型的多态性分布特征。n 方法:选择2010年1月至2018年12月,于滨州市中心血站行n HLA-n A、-n B、-n DRB1高分辨基因分型的2 620例无亲缘关系健康汉族HSC捐献志愿者为研究对象。HSC捐献志愿者年龄为18~45岁;男性志愿者为1 482例,女性为1 138例。采用PCR-序列特异的寡核苷酸探针杂交(SSOP)法,对HSC捐献志愿者全血基因组DNA标本的n HLA-n A、-n B、-n DRB1位点进行高分辨基因分型。采用直接计数法计算HSC捐献者n HLA-n A、-n B、-n DRB1的基因频率和基因型频率。采用Arlerquin 3.5统计学软件计算n HLA-n A、-n B、-n DRB1等位基因单倍型频率,并对n HLA-n A、-n B、-n DRB1的基因分布进行Hardy-Weinberg平衡检验。滨州地区汉族HSC捐献志愿者与文献报道的中国其他地区汉族人群的n HLA-n A、-n B、-n DRB1等位基因频率比较,采用n χ2检验。本研究遵循的程序符合2013年修订版《世界医学协会赫尔辛基宣言》要求,并且与所有受试者签署《中国造血干细胞捐献者资料库志愿捐献者同意书》。n 结果:①本组2 620例HSC志愿捐献者的n HLA-n A、-n B、-n DRB1基因分布的Hardy-Weinberg平衡检验结果显示,各基因位点基因频率的观察值与期望值分别比较,差异均无统计学意义(n P>0.05),即本组HSC捐献志愿者n HLA-n A、-n B、-n DRB1基因分布,符合Hardy-Weinberg平衡定律。②本组2 620例HSC捐献者DNA标本中,检出的n HLA-n A、-n B、-n DRB1等位基因分别为52、89和52种,多态性最高基因组分别为n A*02组(11种),n B*15组(20种)和n DRB1*14组(11种)。2 620例志愿者的血样DNA标本中,检出n HLA-n A-n B-n DRB1单倍型为2 604种,其中频率>0.10%的单倍型为133种,频率>1.00%的单倍型为n A*30:01-n B*13:02-n DRB1*07:01(1.77%)和n A*02:01-n B*13:02-n DRB1*07:01(1.13%)。③本组2 620例志愿者的血样DNA标本中,检出等位基因频率>1.00%的n HLA-n A、-n B、-n DRB1等位基因共计65个,并且在文献报道的广西、上海、江苏、河南、黑龙江、陕西等地区人群中亦均被检出,但是各地区n HLA基因高频基因型(基因频率>5.00%)的分布比较,差异均有统计学意义(n P0.05), which indicated that distribution ofn HLA-n A, -n B and -n DRB1 genes of HSC donors in this study complied with the Hardy-Weinberg equilibrium law. ② In 2 620 DNA samples from HSC donors in this study, there were 52, 89 and 52 alleles in n HLA-n A, -n B and -n DRB1 locus, respectively. The groups with the highest polymorphism at each locus were n A*02 group (11 alleles), n B*15 group (20 alleles) and n DRB1*14 group (11 alleles). A total of 2 604 n HLA-n A-n B-n DRB1 haplotypes were detected in DNA samples, of which 133 haplotypes with frequency>0.10%,n A*30: 01-n B*13: 02-n DRB1*07: 01 (1.77%) and n A*02: 01- n B*13: 02-n DRB1*07: 01 (1.13%) haplotypes with frequency>1.00%. ③ A total of 65n HLA-n A, -n B and -n DRB1 alleles with allele frequency>1.00% were detected in this study, and they were also detected in Han populations of Guangxi, Shanghai, Jiangsu, Henan, Heilongjiang, Shaanxi and other regions reported in literatures. However, there were statistical differences in distribution of high-frequency genotypes (gene frequency>5.00%) in various regions.n Conclusions:The distribution of n HLA-n A, -n B, -n DRB1 gene haplotypes of Han Nationality HSC voluntary donors in Binzhou area has a high degree of genetic polymorphism and geographical distribution characteristics. Through exploring the n HLA-n A, -n B, -n DRB1 high-resolution alleles and haplotype polymorphisms of Han Nationality HSC voluntary donors in Binzhou area, it is helpful to find HSC donors with HLA compatible, and enrich the genetic data of anthropology and immunogenetics in this area.n