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目的:探讨新疆地区维吾尔族人群中纤维粘连蛋白(Fn)基因多态性与草酸钙结石易感性的关系。方法:采用病例对照研究,提取129例草酸钙结石患者(病例组)和94例健康人(对照组)外周血基因组DNA,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析草酸钙结石患者和对照组Fn基因rs6725958、rs10202709和rs35343655位点的多态性,比较不同基因型与草酸钙结石易感性的关系。结果:共筛查Fn基因rs6725958、rs10202709和rs35343655三个位点。病例组和对照组中,3个位点的基因型分布均符合Hardy-Weinberg平衡;病例/对照组中等位基因频率分别为:rs6725958 C=179(69.92%)/119(63.30%)、rs6725958 A=77(30.08%)/69(36.70%),rs10202709 C=245(95.70%)/176(93.63%)、rs10202709 T=11(4.30%)/12(6.38%),rs35343655 A=139(54.30%)/87(46.28%)、rs35343655 G=117(45.70%)/101(53.72%),差异无统计学意义(P>0.05)。结论:新疆地区维吾尔族人群Fn基因rs6725958、rs10202709和rs35343655位点多态性可能与草酸钙结石的发生发展没有明显关系。
Objective: To investigate the relationship between fibronectin (Fn) gene polymorphism and the susceptibility to calcium oxalate stones in Uygur population in Xinjiang Uygur Autonomous Region. Methods: A total of 129 cases of patients with calcium oxalate stones (case group) and 94 healthy controls (control group) were genotyped by case-control study. PCR-RFLP was used to detect genomic DNA. Technical analysis of calcium oxalate stones in patients and control group Fn gene rs6725958, rs10202709 and rs35343655 loci polymorphisms, compared different genotypes and susceptibility to calcium oxalate stones. Results: A total of three SNPs of rs 6725958, rs10202709 and rs35343655 were screened. The genotype distributions of three loci in the case group and the control group were in accordance with the Hardy-Weinberg equilibrium. The allele frequency in the case / control group was rs6725958 C = 179 (69.92%) / 119 (63.30%), rs6725958 A Rs10202709 C = 245 (95.70%) / 176 (93.63%), rs10202709 T = 11 (4.30%) / 12 (6.38%), rs35343655 A = 139 (54.30% ) / 87 (46.28%), rs35343655 G = 117 (45.70%) / 101 (53.72%), the difference was not statistically significant (P> 0.05). Conclusion: The polymorphisms of Fn gene rs6725958, rs10202709 and rs35343655 in Xinjiang Uygur population may not be related to the occurrence and development of calcium oxalate stones.