引用本文:吴奇,韩东阳,周莎莎,张江宽,李昕.帕金森病患者血清中Aβ42含量与MTHFR基因多态性的相关性研究[J].中国临床新医学,0,():-.
吴奇.帕金森病患者血清中Aβ42含量与MTHFR基因多态性的相关性研究[J].中国临床新医学,0,():-.
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帕金森病患者血清中Aβ42含量与MTHFR基因多态性的相关性研究
吴奇1, 韩东阳2, 周莎莎2, 张江宽2, 李昕2
1.郑州大学第二临床医学院;2.作者单位:450000郑州
摘要:
目的 探讨帕金森病(PD)患者血清β-淀粉样蛋白1-42 (Aβ42)水平与N5,N10-亚甲四氢叶酸还原酶(MTHFR) 基因多态性的关系。方法 采用多聚酶链反应2-限制性内切酶片段长度多态性技术(PCR-RFLP) 检测50例PD患者MTHFR基因C677T位点多态性,同时测定血清Aβ42。结果 PD患者MTHFR基因TT型频率为32%,CT型频率为52%,CC型频率为16%; T等位基因频率为60%,C等位基因频率为40%。MTHFR基因TT型PD患者血清Aβ42 显著低于其他两型,CT型血清Aβ42 显著低于CC型。结论 PD患者MTHFR基因C677T 突变与Aβ42水平显著相关,MTHFR基因突变可能是引起低Aβ42的一个重要遗传因素。
关键词:  帕金森病  N5,N10-亚甲四氢叶酸还原酶  基因多态性  β-淀粉样蛋白1-42
DOI:
分类号:
基金项目:
Correlation between serum Aβ42 and MTHFRC677T gene polymorphism in patients with Parkinson"s disease
吴奇
the Second Hospital Affiliated to Zhengzhou University
Abstract:
Objective To investigate the correlation between the serum β-amyloid 1-42 (Aβ42) levels and polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in patients with Parkinson"s disease (PD). Methods The polymorphisms of MTHFRC677T gene of 50 patients with PD were analyzed by PCR-RFLP,the serum Aβ42 levels were measured by enzymatic cycling assay. Results The frequencies of CC, CT and TT genotypes were 16%,52% and 32% respectively. The frequencies of T and C alleles were 60% and 40% respectively. The serum Aβ42 level in TT group was significantly higher than those of the other two groups, and serum Aβ42 levels in CT group was significantly higher than the CC group. Conclusion The MTHFRC677T gene mutations may be significantly associated with Aβ42 levels in patients with PD and the homozygous mutation in MTHFR gene may be an important genetic factor of lower Aβ42.
Key words:  Parkinson"s Disease  5,10-methylenetetrahydrofolate reductase  gene polymorphism  β-amyloid 1-42