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目的:探讨RAC1基因上4个单核苷酸多态性(SNPs)对其mRNA转录和表达的影响,为进一步研究RAC1基因多态性与相关疾病及药物反应性之间的关系做铺垫。方法:实时荧光TaqMan-MGB探针等位基因分型技术被用来测定242例湖北地区健康志愿者的RAC1基因上4个SNPs位点的基因型,同时采用Trizol法提取总mRNA并用RTQ-PCR进行定量分析。结果:本研究所选4个SNPs位点均符合Hardy-Weinberg平衡,且各SNP位点相互独立。4个SNPs的等位基因、基因型分布频率在不同性别间没有差异(P>0.05)。RAC1基因转录的mRNA的表达量与性别和年龄不相关(P>0.05)。携带rs702482-TT基因型者的RAC1 mRNA比携带其他两种基因型的人RAC1 mRNA表达量低,且差异有统计学意义(P<0.05)。结论:RAC1基因转录的mRNA的表达量与性别和年龄无关(P>0.05),但受rs702482-TT基因型的影响而表达下调。
Objective: To investigate the effect of four single nucleotide polymorphisms (RACPs) on the transcription and expression of RAC1 gene in RAC1 gene, so as to pave the way for further research on the relationship between RAC1 gene polymorphism and related diseases and drug responsiveness. Methods: The real-time fluorescent TaqMan-MGB probe allelic typing technique was used to determine the genotypes of four SNPs in RAC1 gene of 242 healthy volunteers in Hubei province. Total RNA was extracted by Trizol method and analyzed by RTQ-PCR Quantitative analysis. Results: All four SNPs selected in this study were in accordance with the Hardy-Weinberg equilibrium and the SNPs were independent of each other. The alleles and genotype frequencies of four SNPs showed no significant difference among different genders (P> 0.05). The mRNA expression of RAC1 gene was not related to sex and age (P> 0.05). RAC1 mRNA of rs702482-TT genotypes had lower expression level of RAC1 mRNA than those of the other two genotypes, with statistical significance (P <0.05). Conclusion: The mRNA expression of RAC1 gene was not related to sex and age (P> 0.05), but down-regulated by the rs702482-TT genotype.