摘要
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:Causes of Parkinson disease have not been mentioned clearly up to now yet.Theory of hereditary susceptibility is the main theory to explain Parkinson disease now.But there is no definite conclusion on which hereditary factors have relationship with it. OBJECTIVE:To study the relationship between gene polymorphism caused by point mutation C to T on cDNA609 basic group of reduced NAD(P)H:quinone oxidoreductase(NQO1) gene and hereditary susceptibility of Parkinson disease. DESIGN:A non randomized synchronized control research based on patient and healthy people. SETTING:Neurology departments in two university hospitals and a senile disease research institute in a university hospital. PARTICIPANTS:Totally 126 patients(Parkinson disease group) diagnosed as Parkinson disease in Neurology Clinic of First Hospital Affiliated to Sun Yat sen University from September 1994 to September 1997,aged 46 to 73 years,in which 74 were males and 52 were females.Totally 136 healthy adults(control group),in which 66 were males and 70 were females,who came to the clinic to do health examination at the same time,aged 40 to 72 years. METHODS:Polymerase chain reaction restriction fragment length polymorphism(PCR RFLP) was used to analyze NQO1 gene polymorphism in Parkinson disease group and healthy adult control group. MAIN OUTCOME MEASURES:Mutation frequency and genotype of point mutation of basic group C to T on NQO1 gene cDNA609. RESULTS:T allele frequency in Parkinson disease group was 52%and that in control group was 43%.There was significant difference between two groups(P< 0.005).There was significant difference on distribution of genotype in Parkinson disease group and control group(P< 0.05).The risk incidence increased 3.8 times in individual with T allele. CONCLUSION:NQO1 gene cDNA609 mutation T allele may be a risk factor to Parkinson disease, which could be associated with the hereditary susceptibility of Parkinson disease.
出处
《中国临床康复》
CSCD
北大核心
2005年第13期182-183,共2页
Chinese Journal of Clinical Rehabilitation
