title: Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism.
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 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).
  
  
  CONCLUSIONS
  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.
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008,China.
authors: Xuewei
authors: X
authors: Zhang
authors: Hainan
authors: H
authors: Zhang
authors: Bing
authors: B
authors: Liao
authors: Jifeng
authors: J
authors: Guo
authors: Kun
authors: K
authors: Xia
authors: Beisha
authors: B
authors: Tang
mesh_terms: D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase