Association Between ATP13A2 Gene Ala746Thr、Thr12Met And Familial Parkinson’s Disease In Xin Jiang

Objective: To study the correlation between ATP13A2 gene(PARK9) Ala746 Thr or Thr12 Met mutation and familial Parkinson disease(Parkinson’s disease, PD) in Xin Jiang. Method: 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 mutations of ATP13A2. And the way is extract DNA 、 Polymerase chain reaction 、 agarose gelelectrophoresis and direct sequencing method. Results: ATP13A2 gene Ala746 Thr type is GG and Thr12 Met type is CC in Xin Jiang Uyghur and Han familial PD、sporadic PD and control group, no mutation and hybrid. After our study, there has not bene detected ATP13A2 gene Ala746 Thr type GA or type AA and Thr12 Met type CT or type TT. In Xin Jiang Uyghur and Han familial PD、sporadic PD and control group. The mutation frequency was 0. There were no significant differences in distribution(P>0.05)(ATP13A2 gene Ala746 Thr of genotype χ2 =0.00, P>0.05; ATP13A2 gene Thr12 Met of genotype χ2 =0.00, P>0.05). The ATP13A2 gene Ala746 Thr and Thr12 Met mutation were no significant differences in distribution of ethnic and gender(P > 0.05). Conclution: The mutation of ATP13A2 gene Ala746 Thr and Thr12 Met 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. Does not exclude other mutations in LRRK2 gene are associated with the onset of Uygur, Han PD.