| 摘要: |
| ［摘要］ 目的 探讨帕金森病(PD)患者血清β-淀粉样蛋白1-42(Aβ1-42)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-限制性内切酶片段长度多态性技术(PCR-RFLP)分别检测PD患者50例和正常对照组50名MTHFR基因C677T位点多态性，同时测定血清Aβ1-42水平。结果 PD组MTHFR基因TT型频率为32.0%，CT型频率为52.0%，CC型频率为16.0%；对照组分别为12.0%、56.0%和32.0%。PD组T等位基因频率为60.0%，C等位基因频率为40.0%；对照组分别为42.0%和58.0%。PD组MTHFR基因TT型患者血清Aβ1-42水平显著低于其他两型（F=4.831，P=0.012），CT型血清Aβ1-42水平显著低于CC型（P<0.05）。结论 PD患者MTHFR基因C677T突变与Aβ1-42水平显著相关，MTHFR基因突变可能是引起低Aβ1-42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：10.3969/j.issn.1674-3806.2019.05.16 |
| 分类号:R 741.02 |
| 基金项目: |
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| Correlation between concentration of serum Aβ1-42 and MTHFRC677T gene polymorphism in patients with Parkinson′s disease |
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WU Qi, HAN Dong-yang, ZHOU Sha-sha, et al.
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The Second Clinical Medical College of Zhengzhou University, Henan 450000, China
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| Abstract: |
| ［Abstract］ Objective To investigate the correlation between the serum levels of β-amyloid 1-42(Aβ1-42) and polymorphisms of N5, N10-methylenetetrahydrofolate reductase(MTHFR) gene in patients with Parkinson′s disease(PD). Methods The polymorphisms of MTHFRC677T gene were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique in 50 PD patients and 50 normal controls, and their serum levels of Aβ1-42 were detected by Enzyme-linked Immunosorbent Assay(ELISA) method. Results The frequency of TT type of MTHFR gene in PD patients was 32.0%; the frequency of CT type was 52.0% and the frequency of CC type was 16.0%. The frequencies of TT type, CT type and CC type in the control group were 12.0%, 56.0% and 32.0% respectively. In PD group, the frequency of T allele was 60.0% and the frequency of C allele was 40.0%. In the control group, the frequency of T allele was 42.0% and the frequency of C allele was 58.0%. The serum level of Aβ1-42 in the patients with TT type of MTHFR gene in PD group was significantly lower than that in the patients with other two types(F=4.831, P=0.012), and the serum level of Aβ1-42 in CT type was significantly lower than that in CC type(P<0.05). Conclusion The MTHFR C677T gene mutations may be significantly associated with Aβ1-42 levels in patients with PD and the homozygous mutation in MTHFR gene may be an important genetic factor of lower Aβ1-42. |
| Key words: Parkinson′s disease(PD) N5, N10-methylenetetrahydrofolate reductase Gene polymorphism β-amyloid 1-42 |
