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 χ(2)=21.244,P<0.0001; T allele χ(2)=24.353,P<0.0001, and for c.960-5G>A genotype's χ(2)=6.524,P =0.038; A allele χ(2)=6.725,P=0.0095).
Conclusion: About 3.35% Chinese Han patients with EOP carry mutations in PINK1. Two SNPs c.189C>T and c.960-5G>A may contribute to the risk of EOP in Chinese Han people.