HTRA2基因G1195A变异与华中地区帕金森病的相关性研究  

Association study of G1195A variant in HTRA2 Gene and Central China population with Parkinson’s disease

作　　者：陈春暖[1] 陈祥荣[2] 蔡乾昆[1] 叶励超[1] 蔡若蔚[1] 王涛[3] CHEN Chun-nuan;CHEN Xiang-rong;CAI Qian-kun(Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou 362000, China)

机构地区：[1]福建医科大学附属第二医院神经内科,泉州362000 [2]福建医科大学附属第二医院神经外科,泉州362000 [3]华中科技大学同济医学院附属协和医院神经内科

出　　处：《临床神经病学杂志》2019年第4期299-301,共3页Journal of Clinical Neurology

基　　金：福建省自然科学基金面上项目(2019J01164);福建省自然科学基金青年创新项目(2015J05148);福建省卫生计生委青年科研课题(2014-1-67);泉州市科技局科技计划重点项目(2014Z45)

摘　　要：目的探讨HTRA2基因G1195A变异与华中地区汉族人群帕金森病(PD)的关系。方法采用病例对照研究提取208例散发性PD患者及234名正常对照者外周血基因组DNA,采用PCR直接测序方法检测HTRA2基因第7号外显子序列。根据Genbank检索到HTRA2基因序列,将正常对照者和散发性PD患者组测得的序列用DNAMAN7进行比对,寻找突变。结果 PD组与正常对照者DNA样品均未发现G1195A突变。结论 HTRA2基因G1195A变异不是华中地区汉族PD患者发病的主要致病因素,有待深入研究。Objective To evaluate the association between the G1195 A variant in HTRA2 gene and Parkinson’s disease(PD) in Han population of Huazhong Region.Methods Genomic DNA was extracted from 208 sporadic PD patients and 234 normal controls. PCR direct sequencing was used to determine the G1195 A variant in the seventh exon of HTRA2 gene in all the participants. According to the sequence of HTRA2 gene on GenBank, the sequencing results of normal controls and sporadic PD patients were compared with the normal sequence by DNAMAN7 software to find the mutation. Results The G1195 A variant were not found in both patients with PD and normal controls by alignment the sequences of exon 7 in HTRA2 gene.Conclusions The G1195 A variant in HTRA2 gene is not a pathogenic mutation in Huazhong Han population with PD. It needs to be further investigated.

关 键 词：帕金森病 突变 HTRA2基因 华中地区 

分 类 号：R742.5[医药卫生—神经病学与精神病学]