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目的:研究Nm23基因中10个单核苷酸多态性(single nucleotide polymorphism,SNP)位点在湖北汉族肾移植患者中的分布情况。方法:采用实时荧光Taq Man-MGB探针等位基因分型技术对湖北汉族150例肾移植患者(男114例,女36例)和150例健康人群(男112例,女38例)的Nm23基因启动子及内含子区域共10个SNP位点的基因型进行检测。结果:Nm23基因上所选的10个SNP位点均符合Hardy-Weinberg平衡,其中rs7207370与rs1694969、rs34214448、rs2318785之间存在高度的连锁不平衡;rs8075231与rs2302254、rs2041296、rs8071647、rs2159359之间存在高度的连锁不平衡;并筛选出3个标签SNPs:rs7207370、rs8075231、rs11868380。结论:Nm23基因10个SNP位点的基因型及等位基因的分布,在肾移植患者和健康人群间无显著性差异。性别对基因型及等位基因的分布影响无统计学差异。
Objective: To investigate the distribution of 10 single nucleotide polymorphism (SNP) loci in Nm23 gene in Hubei Han patients. Methods: Real-time fluorescent TaqMan-MGB probe allelic typing was used to detect the expression of Nm23 in 150 cases of kidney transplantation (114 males and 36 females) and 150 healthy people (112 males and 38 females) Gene promoter and intron region of a total of 10 SNP loci genotypes were detected. Results: All ten SNPs selected by Nm23 gene were in accordance with Hardy-Weinberg equilibrium, among which there was a high degree of linkage disequilibrium between rs7207370 and rs1694969, rs34214448 and rs2318785, rs8075231 and rs2302254, rs2041296, rs8071647 and rs2159359 Of the linkage disequilibrium; and selected three SNPs: rs7207370, rs8075231, rs11868380. Conclusion: There are no significant differences in the genotype and allele distribution of 10 SNP loci in Nm23 gene between kidney transplant recipients and healthy individuals. Gender had no significant effect on genotype distribution and allele distribution.