ATP13A2基因A1a746Thr和Thr12Met位点与家族性帕金森病的关系  

Association between ATP13A2 gene Ala746Thr, Thrl2Met and familial Parkinson＇ s disease

作　　者：李沛珊 姚亚妮[2] 罗琴[3] 夏欢[4] 杨新玲[1] 

机构地区：[1]新疆医科大学第二附属医院神经内科,乌鲁木齐830063 [2]新疆医科大学第一附属医院VIP内科,乌鲁木齐830054 [3]新疆医科大学第三附属医院干部内一科,乌鲁木齐830011 [4]新疆医科大学第三附属医院核医学科,乌鲁木齐830011

出　　处：《中华实验外科杂志》2017年第2期304-307,共4页Chinese Journal of Experimental Surgery

基　　金：国家自然科学基金（81460178）

摘　　要：目的探讨ATP13A2基因（PARK9） Ala746Thr和Thr12Met位点突变与新疆地区维吾尔族（维族）和汉族家族性帕金森病（PD）发病的关系。 方法采用病例-对照研究，采集来自4个互相之间无血缘关系的家庭中的16例家族性PD患者、220例散发性PD患者，及240例年龄、性别、名族相匹配的健康对照组的外周血液，提取DNA，通过扩增-聚合酶链反应（PCR）、琼脂糖凝胶电泳、直接测序法鉴定ATP13A2基因Ala746Thr和Thr12Met位点的突变特点。 结果新疆地区维族11例家族性PD病例组、汉族5例家族性PD病例组、220例散发性PD组及240例对照组ATP13A2基因经检测后，发现Ala746Thr位点均为GG型，未检出GA型或AA型突变；Thr12Met位点均为CC型，未检出CT型或TT型突变，其突变频率均为0，差异无统计学意义（χ2＝0.000，P＝1.000）；ATP13A2基因Ala746Thr和Thr12Met位点突变在族别、性别中的分布均无统计学意义（χ2＝0.000，P＝1.000）。 结论ATP13A2基因Ala746Thr和Thr12Met位点突变可能与新疆地区维族及汉族家族性PD患者、散发性PD患者发病无相关性。Objective To study the correlation between ATP13A2 gene （PARKg） A1a746Thr or Thr12Met mutation and familial Parkinson＇ s disease （PD） in Xinjiang. Methods It is a case control study. First we collected the venous blood from people, which are from 16 patients with PD in 4 unrelated familes, 220 patients with sporadic PD and 240 healthy control group. The 240 healthy control group are matching with the case group in age, gender and nationality. Then we through a way to identify the muta- tions of ATP13A2. And the way is extract DNA, Polymerase chain reaction, agarose gelelectrophoresis and direct sequencing method. Results ATP13A2 gene Ala746Thr type is GG and Thr12 Met type is CC in Xinjiang Uyghur and Han familial PD, sporadic PD and control group, no mutation and hybrid. After our study, there has not bene detected ATP13A2 gene Ala746Thr type GA or type AA and Thr12Met type CT or type TY. In Xinjiang Uyghur and Han familial PD, sporadic PD and control group. The mutation fre- quency was 0. There were no significant differences in distribution （χ2 = 0. 000, P = 1. 000 ）. The ATP13A2 gene Ala746Thr and Thr12Met mutation were no significant differences in distribution of ethnic and gender （χ2 = 0. 000, P = 1. 000 ）. Conclusion The mutation of ATP13A2 gene Ala746Thr and Thr12Met may have nothing to do with the occurrence of PD in Uygur and Han people of familial PD patients and sporadic PD patients in Xinjiang.

关 键 词：ATPl3A2基因 家族性帕金森病 Ala746Thr Thrl2Met 

分 类 号：R742.5[医药卫生—神经病学与精神病学]