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目的 探讨维生素D受体 (VDR)等位基因多态性与草酸钙尿结石之间的关系。 方法 非高钙尿结石患者 15 0例 ,高钙尿结石患者 36例 ,正常对照 90例。采用聚合酶链反应 (PCR)和限制性酶切法研究VDR的Taq1、Apa1、Fok1等位基因多态性与草酸钙尿结石之间的关系。 结果 两个结石组分别与对照组比较 ,VDR的Fok1启动子等位基因多态性分布差异有显著性意义 (P <0 .0 5 )。ff型等位基因 (Fok1等位基因有 2个酶切位点的纯合子出现 2个月条带 )人群中对照组、非高钙尿结石组及高钙尿结石组 2 4h尿钙含量分别为 (0 .0 5 1± 0 .0 0 4 )、(0 .0 74± 0 .0 0 4 )和 (0 .135± 0 .0 11)mmol/kg,FF型人群 3组分别为 (0 .0 31± 0 .0 0 3)、(0 .0 32± 0 .0 0 3)和 (0 .10 8± 0 .0 14 )mmol/kg,差异有显著性意义 (P <0 .0 5 )。Apa1、Taq1的基因多态性分布在各组之间差异无显著性意义 (P >0 .0 5 )。 结论 VDR的启动子Fok1基因多态性可作为鉴别草酸钙尿结石病因的基因标记物 ,ff型等位基因可作为含钙结石危险因素的标志 ,草酸钙尿结石与VDR基因内含子 8(Apa1)及外显子 9(Taq1)多态性无关。
Objective To investigate the relationship between vitamin D receptor (VDR) allele polymorphism and calcium oxalate urolithiasis. Methods 150 patients with non-calcified calculus, 36 patients with calcified calculus, and 90 normal controls. Polymerase chain reaction (PCR) and restriction enzyme digestion were used to study the relationship between polymorphisms of Taq1, Apa1, Fok1 alleles and calcium oxalate stones in VDR. Results Compared with the control group, the distribution of Fok1 promoter allele polymorphism in two groups of stones was significantly different (P <0.05). ff-type allele (Fok1 allele has two restriction enzyme site homozygous 2-month band) in the control group, non-calcification group and calcification group 24 h urinary calcium content were (0. 05 1 ± 0. 0 0 4), (0 0 74 ± 0. 0 0 4) and (0 1 135 ± 0. 0 11) mmol / kg, respectively. The difference was statistically significant (P <0. 0 31 ± 0 .0 0 3), (0 .0 32 ± 0 .0 0 3) and (0 108 ± 0. 0 14) mmol / kg. 0 5). There was no significant difference in the distribution of Apa1 and Taq1 between the groups (P> 0.05). Conclusion The Fok1 gene polymorphism of VDR promoter may be used as a genetic marker to identify the cause of urolithiasis. The ff allele may be used as a marker of risk factors for calcium stones. Calcium oxalate urolithiasis may be associated with VDR gene intron 8 Apa1) and exon 9 (Taq1) polymorphisms.