BACKGROUND: It has been reported that the ATP13A2 gene is one of the most susceptible pathogenic genes of Parkinson’s disease (PD). PARK9 mutations are found in early-onset PD and familial PD patients. Uygur and Han PD patients in the Xinjiang area were recruited as research subjects to study the differences in the Thr12Met and Ala1144Thr loci mutations of the ATP13A2 gene in these PD populations. This study explored the mutations at the Thr12Met and Ala1144Thr gene loci of the ATP13A2 gene in Parkinson’s disease patients in the Uygur and Han populations in the Xinjiang province.

MATERIAL AND METHODS: The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze the Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in a case-control study of 200 age- and sex- matched Uygur and Han PD patients.

RESULTS: Of the 200 PD patients were studied, 2 from the Han group had a Thr12Met mutation, but Ala1144Thr mutations were not found. Among the Uygur PD patients, no Thr12Met or Ala1144Thr mutations were found.

CONCLUSIONS: Thr12Met and Ala1144Thr mutations of the ATP13A2 gene are rare in the Uygur PD patients in Xinjiang. Overall, the mutation rates of Thr12Met and Ala1144Thr in the Uygur and Han PD patients in the Xinjiang region are low.

Keywords: Aged, 80 and over, Amino Acid Substitution - genetics, Asian Continental Ancestry Group - genetics, Base Sequence, DNA Mutational Analysis, Ethnic Groups - genetics, Genetic Predisposition to Disease, Molecular Sequence Data, Mutation - genetics, Parkinson Disease - genetics, Proton-Translocating ATPases - genetics