中国广西人群miRNA 17 92基因簇启动子区rs1491034和rs982873遗传多态性研究

目的 研究rs1491034和rs982873单核苷酸多态性(SNPs)在广西人群中的分布特点,比较二者基因型和等位基因在不同种族、地区人群间的分布差别. 方法 采用SNaPshot SNP分型技术和DNA测序法检测397例广西人群rs1491034和rs982873 SNPs,比较两位点基因型和等位基因频率与国际人类基因组单体型图(HapMap)计划公布的不同种族和地区人群间的差别. 结果 广西人群rs1491034和rs982873均存在TT,CT及CC 3种基因型.2个位点的基因型和等位基因频率在广西人群不同性别间比较,差别均无统计学意义(P＞0.05).广西人群rs1491034基因型和等位基因频率与HapMap-CEU和HapMap-YRI人群比较,差别均有统计学意义(P＜0.01),而rs982873基因型和等位基因频率与HapMap-JPT和HapMap-YRI人群比较,差别均有统计学意义(P＜0.05),但两位点基因型和等位基因频率与其他人群比较,差别均无统计学意义(P＞0.05). 结论 广西人群存在rs1491034和rs982873多态性,与其他种族、地区人群比较存在不同程度的差别.

Exploration of Genetic Polymorphism of rs1491034 and rs982873in the Promoter of miRNA-17-92 Cluster in China Guangxi Population

Objective To explore the distribution characteristics of the rs1491034 and rs982873 single nucleotide polymorphisms (SNPs) in Guangxi populations,and to compare their genotype and allele frequency with different races and populations of other regions.Methods The SNPs of rs1491034 and rs982873 were detected by SNaPshot SNP and DNA sequencing methods.We statistically analyzed the difference between the genotype and allele frequency of the two SNPs that we studied and compared it with the data of different races and regional populations,while were published in the international HapMap project.Results The rs1491034 and rs982873 SNPs contain TT,TC and CC genotypes,respectively,in the Guangxi population.The genotype and allele distribution of the two SNPs were not significantly different between genders in the Guangxi population (P＞0.05).The genotype and allele distribution of the rs1491034 SNP were significantly different from HapMap-CEU and HapMap-YRI populations (P＜0.01),and the genotype and allele distribution of the rs982873 SNP were significantly different from HapMapJPT and HapMap-YRI populations (P＜0.05).However,the genotype and allele distribution of the two SNPs were not significantly different compared with other listed population.Conclusion There are rs1491034 and rs982873 SNPs in the Guangxi population,and there are varying degree of differences in the genotype and allele distribution of the two polymorphism between the Guangxi populations and other published populations of races/regions.