Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism / 中南大学学报(医学版)

ABSTRACT

Objective To determine the frequency of mutations in PINK1 in Chinese Han people with sporadic early-onset Parkinsonism (EOP). Methods DNA sequencing was used to detect point mutations and small deletions/insertions, and quantitative real-time PCR was carried out to detect deletions/insertions and rearrangements in 149 patients and 150 healthy controls. Results Four heterozygous mutations in PINK1 were identified, including 3 missense mutations (c.832C>G, c. 938C>T, c.1 220G>A) and ex 3-8 del. A novel single nucleotide polymorphism (SNP) c.899+18G>A and 14 reported SNPs were identified. Chi-square test showed that c.189C> T and c.960-5G﹥A had significant difference in the genotype frequencies and allele frequencies between the patients and the controls (for c.189C>T genotype χ2=21.244，PT and c.960-5G>A may contribute to the risk of EOP in Chinese Han people.