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

目的探讨ATP13A2基因Thr12Met位点突变在新疆维吾尔族、汉族帕金森病(PD)患者中是否存在差异。方法选取2012年8月—2015年3月新疆伊犁地区、和田地区、乌鲁木齐市流行病学调查中及就诊于新疆医科大学第一附属医院的原发性PD患者420例为病例组(包括维吾尔族200例、汉族220例),同时选取流行病学调查中及就诊于新疆医科大学第一附属医院的健康体检者400例为对照组(包括维吾尔族198例、汉族202例)。采用聚合酶链反应-限制性片段长度多态性(PCR-RELP)和基因测序方法对两组人群进行检测,分析ATP13A2基因Thr12Met位点突变情况。结果在420例PD患者和400例健康体检者中,仅出现2例汉族PD患者发生Thr12Met位点杂合变异AG基因型,且2例PD患者均是早发型帕金森病(EOPD)患者,未发现有纯合变异AA基因型,维吾尔族病例组和对照组均未发现纯合变异AA基因型和杂合变异AG基因型。ATP13A2基因Thr12Met多态性在所有病例组与对照组、维吾尔族病例组与对照组、汉族病例组与对照组、维吾尔族病例组与汉族病例组、EOPD组与晚发型帕金森病(LOPD)组、男病例组与女病例组基因型及等位基因分布间差异均无统计学意义(P>0.05)。结论新疆维吾尔族与汉族ATP13A2基因Thr12Met位点突变率均极低,且Thr12Met位点基因型及等位基因分布间无明显差异;Thr12Met位点的基因型及等位基因与民族、发病年龄及性别均为无明显相关性。

Objective To investigate the difference in ATP13A2 gene Thr12 Met 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 Thr12 Met site mutations. Results Among 420 PD patients and 400 healthy controls, the AG genotype with heterozygous mutation at Thr12 Met 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 Thr12 Met 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 Thr12 Met site and have no significant differences in genotype and allele distribution of ATP13A2 gene Thr12 Met site. Genotype and allele distribution of Thr12 Met site have no obvious correlation with ethnic groups,onset age and gender.