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The present study aimed to investigate the association between T313M polymorphism at exon 4 of the PTEN-induced putative kinase 1 (PINK1) gene and Parkinson's disease (PD) in the Uygur and Han populations of Xinjiang, China. Genetic DNA was extracted from 364 patients with PD from the Uygur and Han populations, as well as 346 normal control patients. Four exons of the PINK1 gene were amplified using quantitative polymerase chain reaction. The exons were then digested for restriction fragment length polymorphism analysis. Gene types and allele frequencies were identified using agarose gel electrophoresis followed by DNA sequencing to analyze the T313M polymorphisms. In the Han population, T313M polymorphism allele frequency was observed to be significantly different between the PD group and the control group (χ2=6.247; P2=5.475 and χ2=10.950, respectively; P<0.05). Polymorphisms in the PINK1 T313M mutation may be associated with genetic susceptibility to PD.
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