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目的:探讨葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性之间的相关性。方法:选取185例痛风患者和300例正常对照者,提取基因组DNA,采用聚合酶链式反应(PCR技术),特异性扩增GLUT9基因所需要的目的片段,对扩增的目的片段进行测序后,比较痛风组和正常对照组的基因型频率及等位基因频率分布情况。结果:女性痛风组中GLUT9基因的启动子区rs13124007和rs6805116两个位点的基因型频率分布与正常对照组相比,统计学上无明显的差异(X2=0.906,P=0.636;X2=3.335,P=0.189),rs13124007 SNP位点的C等位基因频率和rs6850166SNP位点的A的等位基因频率与正常对照组相比也无明显的统计学差异(X2=0.506,P=0.477;X2=3.268,P=0.071)。结论:葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性无明显的相关性。
OBJECTIVE: To investigate the relationship between single nucleotide polymorphisms (SNPs) of rs13124007 (C / G) and rs6850166 (A / G) sites in GLUT9 gene promoter region and gout susceptibility in Chinese Han women Relevance between. Methods: 185 patients with gout and 300 normal controls were selected for genomic DNA extraction. The target fragment required for GLUT9 gene amplification was amplified by polymerase chain reaction (PCR), and the amplified fragment was sequenced , Genotype frequency and allele frequency distribution in gout group and normal control group were compared. Results: There was no significant difference in the genotype frequencies of GLUT9 promoter rs13124007 and rs6805116 between the two groups (χ2 = 0.906, P = 0.636; X2 = 3.335 , P = 0.189). The frequency of allele C of rs13124007 SNP and allele A of rs6850166 SNP were also not significantly different from those of normal control (X2 = 0.506, P = 0.477; = 3.268, P = 0.071). CONCLUSION: SNPs at rs13124007 (C / G) and rs6850166 (A / G) sites in the GLUT9 gene promoter region are not significantly associated with gout susceptibility in Chinese Han women Relevance.