Omi/HTRA2基因与华中地区汉族人群帕金森病的相关性  

Association of Omi/HTRA2 gene with Parkinson's disease in Huazhong Region Han population

作　　者：陈春暖[1] 陈祥荣[2] 蔡乾昆[1] 叶励超[1] 万琼红[1] 蔡若蔚[1] 王涛[3] CHEN Chunnuan;CHEN Xiangrong;CAI Qiankun;YE Lichao;WAN Qionghong;CAI Ruowei;WANG Tao(Department of Neurology,Second Affiliated Hospital of Fujian Medical University,Quanzhou Fujian 362000,China)

机构地区：[1]福建医科大学附属第二医院神经内科,362000 [2]福建医科大学附属第二医院神经外科,362000 [3]华中科技大学同济医学院附属协和医院神经内科,430020

出　　处：《中国神经免疫学和神经病学杂志》2018年第5期347-349,358,共4页Chinese Journal of Neuroimmunology and Neurology

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

摘　　要：目的探讨Omi/HTRA2基因4-6号外显子与华中地区汉族人群帕金森病(Parkinson disease,PD)发病的相关性。方法采用病例对照研究方法,收集208例散发性PD患者及298名性别、年龄、民族等相匹配的正常健康体检者的血样。提取外周血基因组DNA,采用PCR直接测序方法检测全部样本Omi/HTRA2基因4-6号外显子序列。根据Genbank上Omi/HTRA2基因序列,测序结果用DNAMAN7进行比对,寻找突变并计算突变率。结果病例组和对照组Omi/HTRA2基因4-6号外显子区均未发现突变。结论 Omi/HTRA2基因突变可能并不是华中地区汉族PD患者发病的主要致病因素,两组间的确切关系需要进一步研究。Objective To evaluate the association between exon 4-6 of the Omi/HTRA2 gene and Parkinson s disease(PD)in Han population of the Huazhong Region.Methods A case-control study was conducted in our research.A total of 208 PD patients and 298 controls were recruited.Peripheral blood was collected from all of the participants.Genomic DNA was extracted and PCR direct sequencing was used to determine mutations in the 4-6th exons of Omi/HTRA2 gene in all the participants.According to the OMI/HTRA2 gene sequence on GenBank,the sequencing results were compared with the normal sequence by DNAMAN7 software to find mutations and calculate the mutation rates.Results Mutations in exons 4-6 of the Omi/HTRA2 gene were not found in either patients with PD or controls.Conclusions The Omi/HTRA2 gene may be not a pathogenic gene in Huazhong Han population with PD.The definite relationship between this gene and the two groups needs to be further investigated.

关 键 词：帕金森病 HTRA2 华中地区 

分 类 号：R742.5[医药卫生—神经病学与精神病学]