Studies of mutations and polymorphism of PINK1 gene in patients with Parkinson’s disease in littoral of Zhejiang Province

Abstract

Objective To study deletion mutations and polymorphism of PINK1 gene exons in patients with Parkinson’s disease（PD）in the littoral of Zhejiang Province, and analyze the association between these changes and the etiology of PD. Methods All exons of PINK1 gene in 200 PD patients(112 early-onset PD and 88 late-onset PD) and 220 controls(68 young controls and 152 old controls) were amplified by polymerase chain reaction (PCR). All the positive PCR products were sequenced, and genotypes were detected by dot blot allele and genotype frequencies of PINK1 were compared by the Chi-square test. Results No deletion mutations of the exons were found in all patients and controls. However，a known heterozygote point mutation G12169A in exon 5 was identified in 2 patients with early-onset PD. And G12164A polymorphism and G12101A polymorphism were located on PINK1 gene of exon 5. There were G/G and G/A genotypes in G12164A polymorphism, no A/A genotype. There were G/A and A/A genotypes in G12101A polymorphism, no G/G genotype. The chain relation polymorphism A/A genotype frequency was significantly higher in the PD group 84/200(42.0%) than the control group (52/220, 23.6%, χ2=4.034, P=0.045). The frequency was also significantly higher in the late-onset PD (40/88，45.5%) than the old control (32/152，21.1%, χ2=3.951, P=0.047) .There were no significant differences in alleles frequencies of other groups. Conclusion The deletion mutation and point mutation are rare in PD patients in littoral of Zhejiang Province. Chain relation polymorphism at G12164A and G12101A in PINK1 gene might be a susceptible factor for PD patients. Key words: Parkinson disease; Protein kinases; Mutation; Polymorphism; genetic