ATP13A2基因亚型Ala746Thr和Thr12met突变与新疆维吾尔族早发型和家族型帕金森病临床的相关研究

项目名称： ATP13A2基因亚型Ala746Thr和Thr12met突变与新疆维吾尔族早发型和家族型帕金森病临床的相关研究

项目编号： No.81460178

项目类型： 地区科学基金项目

立项/批准年度： 2015

项目学科： 医药、卫生

项目作者： 杨新玲

作者单位： 新疆医科大学

项目金额： 47万元

中文摘要： 帕金森病（parkinson's disease,PD）是一种中老年人常见的中枢神经系统变性疾病，晚期多伴有痴呆，严重影响患者的生活质量，给国家和家庭带来沉重的社会和经济负担。流调显示PD发病具有种族差异性和家族性（约占PD的15％）。有研究表明ATP13A2基因是PD的易感致病基因，与常染色体隐性遗传性PD相关，其基因突变具有典型早发临床特征。其中Ala746Thr和Thr12Met突变类型与不同种族早发型和家族型PD相关，但也有不同的研究报道。目前尚未见有关于新疆地区维吾尔族早发型和家族型PD 与ATP13A2基因相关性研究报道。本研究拟采用PCR- RFLP等技术，探讨ATP13A2基因多态性和突变性与新疆地区维吾尔族人群早发型和家族型PD发病的关系以及与临床症状及预后的相关性；为PD的发病机制提供民族差异遗传学基础研究；并为新疆地区维吾尔族人群PD的早期诊治和预防提供理论依据。

中文关键词： 帕金森病；ATP13A2基因；维吾尔族；早发型；家族型

英文摘要： Parkinson's disease (Parkinson's disease PD) is a degenerative diseases of the central nervous system, which is commonly occured in aged people and mostly showed disease-associated dementia in advanced phase. Morbidity of PD not only seriously affected the quality of the patients' life but also increased the social and economic burden to the country and their family. Epidemiological survey showed that PD prevalence is vary among different ethnics and differtent familial region and 10% of PD patients had family history. Studies have shown that ATPl3A2 is susceptibility genes which might be lead to PD prevalence.ATPl3A2 gene had relationship with autosomal recessive hereditary PD and ATPl3A2 gene mutation showed the typical earlier clinical features. Some studies suggested that the its subtype gene Ala746Thr and Thr12Met mutation showed relationship with early-onset and familial PD while there was some different research report. Until now few reports described the correlation between the ATP13A2 genetic mutation and early-onset and familial PD in Xinjiang Uygur population. The present study used polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) approaches to investigate the ATP13A2 gene polymorphism and mutability in early-onset and familial PD in Xinjiang Uygur population. This research will provide the basic information for understanding PD pathogenesis with ethnic discrepancy; furthermore it will provide the theoretical basis for diagnosis,treatment and prevention of PD in its early stage for Xinjiang Uygur population.

英文关键词： Parkinson's disease;ATP13A2 gene;Uygur;early-onset;familial