帕金森病患者MTHFR C677T基因变异与血清铜水平关系的研究

A. Ay, Nevra Alkanli, S. Guler
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引用次数: 0

摘要

目的:本研究旨在探讨帕金森病患者MTHFR C677T基因变异与血清铜水平的关系。材料与方法:本研究分为患者组和对照组,其中帕金森病患者63例,健康对照32例。测定MTHFR基因变异的基因型分布,并测定血清铜水平。采用PCR、RFLP和原子吸收分光光度法测定。结果:帕金森病患者血清铜水平明显高于健康对照组。虽然MTHFR C677T基因变异的基因型分布在患者组和对照组之间没有明显差异,但该基因变异的CC纯合子基因型在患者组中明显多于其他基因型。此外,确定该基因变异的C等位基因频率与帕金森病患者的Hardy-Weinberg分布有显著差异。携带CT和TT基因型的帕金森病患者血清铜水平明显高于携带相同基因型的对照组。结论:在我们的研究中,在色雷斯人群中,确定MTHFR C677T基因变异与血清铜水平的关系可能是帕金森病的重要因素。综上所述,MTHFR C677T基因变异、基因型分布和血清铜水平的评估对帕金森病的预后具有极其重要的意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Investigation of the Relationship Between MTHFR C677T Gene Variation and Serum Copper Levels in Patients Diagnosed with Parkinson's
Objective: In this study, we aimed to investigation of the relationship between MTHFR C677T gene variation and serum copper levels in patients diagnosed with Parkinson's. Materials and Methods: For our study, patient and control groups were formed including 63 Parkinson's patients and 32 healthy controls. Genotype distributions for MTHFR gene variation were determined and serum copper levels were measured. In these processes PCR, RFLP and atomic absorption spectrophotometer methods were applied. Results: Serum Cu levels of Parkinson's patients were found to be significantly higher than healthy controls. Although the significant difference was not found between the patient and control groups in terms of genotype distributions of the MTHFR C677T gene variation, CC homozygote genotype of this gene variation was observed significantly more than other genotypes in the patient group. In addition, the C allele frequency of this gene variation was determined significantly different from the Hardy-Weinberg distribution in Parkinson's patients. Serum copper levels of Parkinson's patients carrying CT and TT genotypes were detected significantly higher than the serum copper levels of controls carrying the same genotypes. Conclusion: In our study, in Thrace population, it was determined that the relationship between MTHFR C677T gene variation and serum copper levels may be an important factor for Parkinson's disease. In conclusion, the evaluation of MTHFR C677T gene variation genotype distributions and serum copper levels together is extremely important for prognosis of Parkinson's disease.
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