Analysis of Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in Parkinson's disease patients in Xinjiang Uygur and Han ethnic groups.
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.


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.
Department of Neurology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
Guihua
G
Li
Department of Neurology, Traditional Chinese Medicine Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
Zhenzhong
Z
Zhang
Department of Medicine, Third Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
Huan
H
Xia
Department of Neurology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Urumqi, Xinjiang, China (mainland).
Xinling
X
Yang
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D006180:Proton-Translocating ATPases / Q000235:genetics*
C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases