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背景:帕金森病的病因至今尚未阐明,遗传易患性学说是目前解释帕金森病的主要理论,但哪些遗传因素与此有关,还没有定论。目的:探讨依赖还原型辅酶Ⅰ/Ⅱ醌氧化还原酶基因cDNA609位碱基C→T点突变所致的基因多态性与帕金森病遗传易患性的关系。设计:以患者和健康人为研究对象,非随机同期化对照研究。单位:两所大学医院的神经内科和一所大学医院的老年病研究所。对象:1994-09/1997-09中山大学第一附属医院神经科门诊诊断为帕金森患者126例(帕金森病组),年龄46～73岁,其中男74例,女52例;136名健康成人(对照组),其中男66名,女70名,同期来自门诊健康查体,年龄40～72岁。方法:采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)的方法分析帕金森病人组与健康成人对照组NQO1基因多态性。主要观察指标:NQO1基因cDNA609位碱基C→T点突变的频率及其基因型。结果:帕金森病组的T等位基因频率为52%,而对照组为43%,两组差异有显著意义(P<0.05);基因型分布在帕金森病和对照组之间差异有显著意义(P<0.05),带T等位基因的个体患帕金森病的风险增加3.8倍。结论:NQO1基因cDNA609突变T等位基因可能是帕金森病发生的危险性因素,与帕金森病的遗传易患性有关。
Background: The etiology of Parkinson’s disease has not been elucidated so far. The theory of genetic predisposition is the main theory to explain Parkinson’s disease. However, it is unclear which genetic factors are related to it. OBJECTIVE: To investigate the relationship between genetic polymorphisms caused by C → T point mutations at the base of cDNA609 of dependent coenzyme Ⅰ / Ⅱ quinone oxidoreductase gene and the genetic susceptibility to Parkinson’s disease. Design: Patient and healthy subjects, non-randomized, synchronized study. Unit: Neurology at two university hospitals and the Geriatric Institute at a university hospital. PARTICIPANTS: A total of 126 patients with Parkinson disease (Parkinson’s disease group) were enrolled in the neurology outpatient department of the First Affiliated Hospital of Sun Yat-sen University from September 1994 to September 1997, aged from 46 to 73 years, including 74 males and 52 females, and 136 healthy Adults (control group), of which 66 were males and 70 females, over the same period from out-patient health examination, aged 40 to 72 years. Methods: Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to analyze the polymorphism of NQO1 in Parkinson’s disease patients and healthy adults. MAIN OUTCOME MEASURES: The frequency and genotype of C → T point mutation at base609 of NQO1 gene. Results: The frequency of T allele in Parkinson’s disease group was 52%, while the control group was 43%, the difference between the two groups was significant (P <0.05). There was significant difference in genotype distribution between Parkinson’s disease and control group Significance (P <0.05), individuals with the T allele had a 3.8-fold increased risk of Parkinson’s disease. CONCLUSION: The T allele of N601 mutation in cDNA609 may be a risk factor for Parkinson’s disease, which is related to the genetic predisposition of Parkinson’s disease.