帕金森病相关致病基因的多态性及表型特点在中国人群的研究进展  

Research Progress on Polymorphisms and Phenotypic Characteristics of Parkinson’s Disease-Related Genes in Chinese Population

作　　者：李书娟 徐耀[2] 陈应柱[2] 

机构地区：[1]大连医科大学第一临床学院,辽宁 大连 [2]江苏省苏北人民医院神经内科,江苏 扬州

出　　处：《临床医学进展》2020年第4期568-577,共10页Advances in Clinical Medicine

基　　金：江苏省“六大人才”高峰培养资助项目(WSW-246);扬州市科技计划项目(YZ2016077);扬州市“十三五”科教强卫专项经费资助(LJRC20187)。

摘　　要：帕金森病是一种常见的神经退行性疾病,严重影响了我国数百万中老年人的健康和生活质量。PD的发病机制与环境因素和遗传因素密切相关,具有不同的遗传方式。过去二十年来,PD遗传学的研究取得巨大进步,研究表明不同种族的基因多态性及临床表型存在差异。本文主要对多个PD相关突变基因的多态性及其表型特点在中国人群中的研究做一综述,旨在为PD的不同致病基因携带者提供临床表型及治疗参考。Parkinson’s disease is a common neurodegenerative disease that seriously affects health and quality of life of millions of middle-aged and elderly people in China. The pathogenesis of Parkin-son’s disease is closely related to environmental factors and genetic factors, and has different ge-netic methods. In the past two decades, research on PD genetics has made great progress. Studies have shown that there are differences in genetic polymorphisms and clinical phenotypes between different races. This article reviews the polymorphisms and phenotypic characteristics of PD-related genes in Chinese population. The aim is to provide clinical phenotypes and treatment references for different pathogenic gene carriers of PD.

关 键 词：帕金森病 基因表型 中国 

分 类 号：R74[医药卫生—神经病学与精神病学]