Parkinson's disease (PD) has widely been reported to be associated with mutations in the PARK genes. To investigate potential genetic risk factors for PD in a northern Han Chinese population, six single nucleotide polymorphisms (SNP) (R366W, V380L, P196S, R1628P, G2385R and R461W) located in four PARK genes were multiplex-amplified in two independent polymerase chain reaction (PCR) systems. Restriction fragment length polymorphisms (RFLP) were subsequently genotyped with Hae III endonuclease digestion in samples from 202 patients with PD and 212 control participants. High-throughput, multiplexed PCR-RFLP assays were able to accurately identify all six SNP. The genotypic frequency of G2385R in PARK8 was significantly different between the patient and control groups; however, the remaining SNP were not associated with PD. No heterogeneity was observed in the R461W site, and only one P196S site was found in the patient group. The polymorphic sites R366W and V380L and R1628P and G2385R were not in linkage disequilibrium. Carriers of 2385R presented at a higher Hoehn-Yahr stage compared to non-carriers. This study demonstrated an association of the G2385R allele with risk for PD in a northern Han Chinese population.
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