中国全科医学Issue(4)：437-441,5.DOI:10.3969/j.issn.1007-9572.2016.04.016
维吾尔族与汉族帕金森病患者ATP13A2基因Thr12Met位点突变分析
ATP13A2 Gene Thr12Met Site Mutations of Patients With Parkinson′s Disease of Uygur and Han Ethnic Groups
摘要
Abstract
Objective To investigate the difference in ATP13A2 gene Thr12Met site mutations in patients with Parkinson′s disease(PD)between Uygur ethnic group and Han ethnic group. Methods From August 2012 to March 2015,we enrolled 420 patients(including 200 Uygur people and 220 Han people)with primary PD who received treatment in the First Affiliated Hospital of Xinjiang Medical University or were the respondents of the epidemiological investigation in Yili Prefecture, Hotan Prefecture and Urumqi. We also enrolled 400 healthy people( including 198 Uygur people and 202 Han people)who received physical examination in the hospital and were the respondents of the epidemiological investigation in the same period as control group. PCR-RELP and gene sequencing method were employed on both groups. Analysis was made on ATP13A2 gene Thr12Met site mutations. Results Among 420 PD patients and 400 healthy controls,the AG genotype with heterozygous mutation at Thr12Met site was found in 2 PD patients of Han ethnic group. The two patients both had early - onset Parkinson′s disease(EOPD),and no AA genotype with homozygous mutation was found in them. No AA genotype with homozygous mutation or AG genotype with heterozygous mutation was found among Uygur people in case group and healthy controls. In the comparison of genotype and allele distribution,there were no significant differences in Thr12Met polymorphism of ATP13A2 genes between case group and control group,between Uygur patients in case group and Uygur patients in control group,between Han patients in case group and Han patients in control group,between Uygur patients and Han patients in case group,between EOPD group and LOPD group and between male patients in case group and female patients in case group(P > 0. 05 for all). Conclusion Uygur patients and Han patients have low mutation rate at ATP13A2 gene Thr12Met site and have no significant differences in genotype and allele distribution of ATP13A2 gene Thr12Met site. Genotype and allele distribution of Thr12Met site have no obvious correlation with ethnic groups,onset age and gender.关键词
帕金森病/ATP13A2 基因/Thr12Met位点/突变/维吾尔族/汉族Key words
Parkinson disease/ATP13A2 genes/Thr12Met site/Mutation/Uygur nationality/Han nationality分类
医药卫生引用本文复制引用
李桂花,夏欢,杨新玲..维吾尔族与汉族帕金森病患者ATP13A2基因Thr12Met位点突变分析[J].中国全科医学,2016,(4):437-441,5.基金项目
新疆维吾尔自治区自然科学基金资助面上项目（2014211C106）---ATP13A2基因亚型 Ala746Thr 和 Thr12Met 突变类型与新疆维吾尔族早发型帕金森病的相关性研究 （）
