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Objective To investigate whether there is an association between PARK16 locus with Parkinson’s disease in Han population of Suzhou area.Methods Polymerase chain reaction (PCR), sequence analysis, mutation sensitive“molecular switch”mediated by Pfu DNA polymerases and real time PCR were used to determine the genotype of each subject. The PARK16 representative SNP, rs947211 was analyzed in 160 PD patients and 200 age-matched healthy controls.Results The results of Pfu-mediated“molecular switch”were 100% concordant with the direct-sequencing analysis. All the genotypes were found in this study. The significant distinction occurred in allele frequency of the rs947211, with the higher expression of G allele in PD patients compared with controls (60.63% VS. 51.00%;χ2=6.662, P=0.010, OR=0.676, 95%CI: 0.502~0.911). There were remarkable differences between G/G genotype and A/G+A/A genotype of two groups (χ2=8.401, P=0.004, OR=1.951, 95%CI: 1.238~3.076). In addition, the significant distinction also existed in different genotypes through H-Y stage in cases (P<0.05), such as the stage of G/G genotype was higher than A/A genotype (P=0.025, 95%CI: 0.059~0.851) and A/G genotype (P=0.020, 95%CI: 0.058~0.654).Conclusions We have established a simple, reliable rs947211 genotyping method mediated by Pfu DNA polymerases. The results confirmed the existence of PARK16 in Han population of Suzhou area, rs947211 G/G genotype maybe a risk factor for PD and G/G genotype carriers perhaps obtain higher illness severity.
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