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土耳其肾结石患者 E-钙黏蛋白基因 3'-UTR C/T 多态性。

E-cadherin gene 3'-UTR C/T polymorphism in Turkish patients with nephrolithiasis.

机构信息

Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, Ankara 06500, Turkey.

出版信息

Mol Biol Rep. 2011 Nov;38(8):4931-4. doi: 10.1007/s11033-010-0635-8. Epub 2010 Dec 14.

Abstract

Nephrolithiasis is a complex disease and many gene polymorphisms have been associated with stone formation. In this study we aimed to investigate another possible relationship between E-cadherin gene (CHD1) 3'-UTR C/T polymorphism and calcium oxalate nephrolithiasis in the Turkish population. Study population was composed of 143 patients with nephrolithiasis and 158 control subjects. CHD1 3'-UTR C/T polymorphism was analysed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique. Genotype distribution of the investigated polymorphism was not deviated from Hardy-Weinberg equilibrium (HWE) in patients and control subjects (P > 0.05). C allele frequency was 85.7 and 85.1% in patients and controls, respectively (P = 0.836). Genotype distributions of the CHD1 3'-UTR C/T polymorphism among patients were also not significantly different from those among control subjects (P = 0.636). Our results showed that there is no association between the CHD1 gene 3'-UTR C/T polymorphism and nephrolithiasis in our population.

摘要

肾结石是一种复杂的疾病,许多基因多态性与结石形成有关。在这项研究中,我们旨在探讨钙草酸肾结石患者 E-钙黏蛋白基因(CHD1)3'-UTR C/T 多态性与土耳其人群之间的另一种可能关系。研究人群由 143 例肾结石患者和 158 例对照组成。采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)技术分析 CHD1 3'-UTR C/T 多态性。所研究的多态性的基因型分布在患者和对照组中均未偏离 Hardy-Weinberg 平衡(HWE)(P>0.05)。患者和对照组的 C 等位基因频率分别为 85.7%和 85.1%(P=0.836)。CHD1 3'-UTR C/T 多态性在患者中的基因型分布与对照组也无显著差异(P=0.636)。我们的结果表明,在我们的人群中,CHD1 基因 3'-UTR C/T 多态性与肾结石之间没有关联。

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