湖北地区器官移植人群Nm23基因多态性

Nm23 gene polymorphism in organ transplantation population in Hubei Province

目的:研究Nm23基因10个单核苷酸多态性(SNP)位点在服用免疫抑制剂的器官移植患者中的分布特点。方法:以器官移植患者200例(男150例,女50例)为研究对象,并以同期体检的200例健康人(男150例,女50例)为正常对照。采用实时荧光TaqMan-MGB探针等位基因分型技术进行Nm23基因启动子及内含子区域共10个SNP位点多态性检测,并采用分片段扩增直接测序方法对上述位点进行抽样验证。结果:所选Nm23基因的10个SNP位点分布均符合Hardy-Weinberg平衡,通过连锁不平衡分析选择rs2302254、rs34214448、rs11868380、rs2318785作为标签SNP位点。rs2302254、rs34214448、rs11868380、rs2318785的基因型频率和等位基因频率在器官移植组和正常对照组的分布无明显差异(P>0.05)。分析不同性别、不同年龄层器官移植患者的Nm23基因多态性,其分布亦无显著性差异(P>0.05)。结论:器官移植人群的Nm23基因多态性与健康人群比较无显著差异,器官移植人群不同性别、年龄层间的基因多态性分布亦无显著差异,需进一步分析蛋白表达水平及活性差异,为研究Nm23基因多态性与硫唑嘌呤等免疫抑制剂的疗效、不良反应关联性提供依据。

To analyze the genotypic and allelic distributions of 10 single nucleotide polymorphisms （SNPs） of Nm23 gene in organ transplantation population who took immunosuppressants in Hubei Province. METHODS 200 organ transplantation patients （150 men ＆ 50 women） were enrolled as DNA sample donors,with 200 healthy subjects （150 men ＆ 50 women） as normal control. 10 SNPs of Nm23 were genotyped by real time Taq Man-MGB genotyping assay and validated by direct gene sequencing. RESULTS Distributions of all the loci followed the Hardy-Weinberg equilibrium, rs2302254, rs34214448, rs11868380, rs2318785 were chosen as Tag SNPs by linkage disequilibrium analysis. There were no significant differences of the genotypic and allelie distributions of the 4 SNPs between organ transplantation group and control group （P〉 0. 05）. In organ transplantation group, neither significant differences of genetic polymorphism among different genders nor different ages were found （P〉0. 05）. CONCLUSION There are no significant differences of Nm23 genetic polymorphism be- tween organ transplantation group and control group, neither differences among different genders nor different ages in organ transplantation group. Further studies about protein expression levels and protein activities are necessary, which together con- tribute to research about correlation between Nm23 polymorphisms and effects or adverse reactions of immunosuppressants like azathioprine.