title: [A study on PARKIN gene in three pedigrees with autosomal recessive early-onset Parkinson's disease].
abstract: OBJECTIVE
  To detect the possible relationship between PARKIN gene and the Chinese pedigree with autosomal recessive early-onset Parkinson's disease(AREP).
  
  
  METHODS
  Clinical examination was carried out in 6 patients from 3 Chinese pedigrees with AREP and their 23 family members. PCR amplification of all exons of PARKIN gene was performed. The PCR products were analyzed by denaturing high-performance liquid chromatography(DHPLC) to screen for point mutation and polymorphism. And in the samples with abnormal DHPLC result, further sequencing was conducted to confirm the type of mutation and polymorphism.
  
  
  RESULTS
  All exons of PARKIN gene from the research subjects were successfully amplified. A heterozygous point mutation (Gly284Arg) in exon 7 was found in one pedigree. A polymorphism (Ser167Asn) in exon 4 was found in another pedigree. All the patients had the past history of exposure to environmental poison.
  
  
  CONCLUSIONS
  When acting together with risky environmental factors, the heterozygous mutation Gly284Arg in PARKIN gene may cause AREP. The polymorphism Ser167Asn in PARKIN gene increases the risk of developing Parkinson's disease and may cause AREP when acting together with hydrargyrism.
authors.affiliation: Department of Neurology, China-Japan Friendship Hospital, Beijing, PR China.
authors.forename: Miao
authors.initials: M
authors.lastname: Jin
authors.forename: Jin-song
authors.initials: JS
authors.lastname: Jiao
authors.forename: Wei-hong
authors.initials: WH
authors.lastname: Gu
authors.forename: Kang
authors.initials: K
authors.lastname: Wang
authors.forename: Hai-qiang
authors.initials: HQ
authors.lastname: Zou
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
authors.forename: Guo-xiang
authors.initials: GX
authors.lastname: Wang
mesh_terms: D017668:Age of Onset; D000368:Aged; D002681:China / Q000453:epidemiology; D002851:Chromatography, High Pressure Liquid; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein