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目的探讨维生素D受体(VDR)基因多态性与新疆南疆地区维吾尔族小儿上尿路含钙结石的关系。方法选择新疆南疆地区维吾尔族上尿路含钙结石患儿89例(病例组)和同地区正常儿童121例(对照组),提取外周血基因组DNA,应用聚合酶链反应-限制性片段长度多态性方法检测并分析VDR的ApaI、TaqI、FokI基因多态性的分布频率及其与小儿上尿路含钙结石的关系。结果病例组和对照组VDR基因的FokI等位基因多态性分布频率差异有统计学意义(χ2=15.04;P<0.001),两组ApaI和TaqI等位基因多态性分布频率差异无统计学意义(χ2=0.350,P=0.552;χ2=2.930,P=0.093);两组FokI的基因型差异有统计学意义(χ2=11.621,P<0.001),两组ApaI和TaqI的基因型分布频率差异无统计学意义(χ2=0.287,P=0.592;χ2=2.483,P=0.115)。FokI基因型的分布频率在男性中有统计学意义(χ2=8.497,P=0.004),在女性中无统计学意义(χ2=3.230,P=0.072);ApaI和TaqI基因型分布频率无论在男性还是女性中均没有统计学意义(χ2=1.938,P=0.164;χ2=0.828,P=0.363和χ2=1.667,P=0.197;χ2=0.937,P=0.333)。结论维生素D受体(VDR)的FokI基因多态性可作为新疆维吾尔族小儿上尿路含钙结石的基因标记物,f等位基因可作为含钙结石危险因素的标志;ApaI和TaqI基因多态性与含钙结石的形成没有关系。
Objective To investigate the relationship between vitamin D receptor (VDR) gene polymorphism and upper urinary calcium-bearing stones in Uygur children in southern Xinjiang. Methods Eighty-eight Uygur children with upper urinary tract calculi in southern Xinjiang were enrolled in this study. Totally 89 children (control group) and 121 normal children (control group) were enrolled in this study. Genomic DNA was extracted from peripheral blood and polymerase chain reaction-restriction fragment length Polymorphism was used to detect and analyze the frequency distribution of ApaI, TaqI and FokI polymorphisms in VDR and its relationship with calculi in upper urinary tract in children. Results There was significant difference in the distribution frequency of FokI allele between VDR gene in case group and control group (χ2 = 15.04; P <0.001). There was no significant difference in the frequencies of ApaI and TaqI alleles (Χ2 = 0.350, P = 0.552; χ2 = 2.930, P = 0.093). The genotypes of FokI in the two groups were significantly different (χ2 = 11.621, P <0.001) The difference was not statistically significant (χ2 = 0.287, P = 0.592; χ2 = 2.483, P = 0.115). The distribution frequency of FokI genotypes was statistically significant in males (χ2 = 8.497, P = 0.004), but not in females (χ2 = 3.230, P = 0.072). The frequencies of ApaI and TaqI genotypes were significantly higher in males Or women (χ2 = 1.938, P = 0.164; χ2 = 0.828, P = 0.363 and χ2 = 1.667, P = 0.197; χ2 = 0.937, P = 0.333). Conclusion FokI gene polymorphism of vitamin D receptor (VDR) can be used as a genetic marker of upper urinary calcium-bearing calculi in children with Uygur in Xinjiang, and f allele can be used as a marker of risk factors of calcium-bearing stones. There are many genes of ApaI and TaqI There is no relationship between the formation and calcium-bearing stones.