湖北汉族健康人群肿瘤转移抑制基因Nm23基因多态性的测定及分布

Distribution of Nm23 gene polymorphism in healthy Chinese Hans population in Hubei,China

目的:建立Nm23基因上10个单核苷酸多态性位点基因型的检测方法,并探讨这些位点在湖北武汉地区健康汉族人群中基因型分布特点,为研究Nm23基因多态性与相关疾病或药物不良反应关联性提供依据。方法:随机选取武汉地区健康体检人群200例,其中男性115例,女性85例。采用实时荧光Taq Man-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个单核苷酸位点多态性检测。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:建立的方法能够准确、快速地对Nm23基因单核苷酸多态性位点进行分型检测。所选Nm23基因上10个位点在湖北汉族人群中分布同国内其他地区研究及Hap Map数据库中北京地区汉族人群相近。且均符合Hardy-weinberg平衡,其中rs16949649与rs7207370、rs34214448,rs2159359与rs2302254、rs8075231、rs2041296、rs8071647位点间高度连锁不平衡,并运用Heploview软件筛选出4个Tag SNPs:rs34214448、rs2302254、rs11868380、rs2318785。结论:试验中建立的基因型测定方法可满足Nm23基因遗传多态性研究的需要,在Nm23基因多态性与相关疾病及药物不良反应关联性研究中可能具有重要应用价值。

Objective：To develop a method for the detection of 10 single nucleotide polymorphisms（SNPs） of Nm23 gene,and to explore the genotypic and allelic distributions of the 10 SNPs in Chinese Hans population in Wuhan.Methods： Two hundreds healthy subjects ,115 men and 85 women included ,were enrolled as DNA sample donors.The real time TaqMan-MGB genotyping assay was used for the determination of the 10 SNPs selected ,and the results were validated by direct gene sequencing.Results：The method established could accurately and quickly screen the genotypes of the 10 SNPs of Nm23/NDPK gene.Distribution frequencies of the 10 SNPs were similar to these in other researches as well as these of HCB.All the loci follow the Hardy-Weinberg equilibrium.Highly linkage disequilibriums were found between rs 16949649 and rs7207370 , rs16949649 and rs34214448 , rs2159359 and rs2302254 , rs2159359 and rs8075231 ,rs2159359 and rs2041296 ,as well as rs2159359 and rs8071647 ,respectively.Four Tag SNPs：rs34214448 , rs2302254 ,rs11868380 and rs2318785 were initially selected by Heploview software.Conclusion：The method established for SNP gen-otyping can meet the needs for rapid analysis of Nm 23 gene polymorphisms ,and may have great values in investigating the association between gene polymorphisms and diseases as well as adverse drug reactions.