Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism

VernacularTitle:早发性帕金森综合征的PINK1基因变异分析
Author: Xuewei ZHANG ; Hainan ZHANG ; Bing LIAO ; Jifeng GUO ; Kun XIA ; Beisha TANG
Publication Type:Journal Article
Keywords: early-onset Parkinsonism; PINK1; mutation; DNA sequencing; quantitative real-time PCR
From: Journal of Central South University(Medical Sciences) 2011;36(6):490-497
CountryChina
Language:Chinese
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，P<0.0001; T allele χ2=24.353，P<0.0001, and for c.960-5G﹥A genotype's χ2=6.524，P =0.038; A allele χ2=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.