title: Evaluating intra-genetic variants of DJ-1 among Parkinson's disease patients of eastern India.
abstract: OBJECTIVE
  Mutations in the DJ-1 gene have been described in autosomal recessive Parkinson's disease (PD) of European ancestry, Ashkenazi Jews, and Afro-Caribbean patients. Up to date, there is a lack of information about the prevalence of DJ-1 mutations among Indian PD patients.
  
  
  METHODS
  In this study, we examined for DJ-1 mutations in Eastern Indian PD patients. Exons (no. 2-7) and intron boundaries of the DJ-1 gene were screened in 300 individuals (PD, 150; controls, 150) by direct sequencing.
  
  
  RESULTS
  A total of six intronic variants (IVS4+30T>G, IVS4+45G>A, IVS4+46G>A, IVS4-98G>A, IVS5+31G>A and IVS5+69G>C) were detected including one novel intronic change (IVS5+69G>C). Clinical features of the two patients exhibiting IVS5+69G>C (novel change) were compared and both were found to have early onset PD. IVS4+30T>G, IVS4+45G>A, and IVS4+46G>A were found to be present equally both in the patient and control cohorts. We did not find any DJ-1 mutations in our study.
  
  
  CONCLUSIONS
  Our results suggest that, unlike Parkin, pathogenic DJ-1 mutations seem to be restricted in certain populations and are unlikely to be of clinical importance in the eastern part of India.
authors.affiliation: Anthropological Survey of India, Kolkata, India.
authors.forename: Jaya
authors.initials: J
authors.lastname: Sanyal
authors.forename: Biswanath
authors.initials: B
authors.lastname: Sarkar
authors.forename: Tapas Kumar
authors.initials: TK
authors.lastname: Banerjee
authors.forename: Subhash Chandra
authors.initials: SC
authors.lastname: Mukherjee
authors.forename: Bidhan Chandra
authors.initials: BC
authors.lastname: Ray
authors.forename: V
authors.initials: V
authors.lastname: Raghavendra Rao
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015513:Oncogene Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000502:physiology*; D000071617:Protein Deglycase DJ-1; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1