Mutations in the alpha-synuclein gene in Parkinson's disease among Indians

Acta Neurol Scand. 2001 Feb;103(2):120-2. doi: 10.1034/j.1600-0404.2001.103002120.x.

Abstract

Objective: To investigate the prevalence of G88C, G209A and any other mutation(s) in exons 3 and 4 of the alpha-synuclein gene in Indian patients with Parkinson's disease (PD).

Methods: A total of 169 PD patients comprising 18 familial, 3 juvenile, 48 early onset and 100 sporadic cases were included in this study. Genomic DNA was amplified by PCR using primers specific for Exons 3 and 4. Mutations at G88C and G209A were screened following restriction enzyme digestion of the PCR product. Direct PCR product sequencing of entire exons 3 and 4 was carried out for at least one proband each from the 10 familial cases.

Results: Neither G88C and G209A mutations nor any other mutation in exons 3 and 4 was found in the PD patients analysed.

Conclusion: The G88C and G209A mutations do not seem to be the predominant genetic determinant of PD among Indians.

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • DNA Primers / genetics
  • Exons / genetics
  • Female
  • Humans
  • India / epidemiology
  • Male
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Parkinson Disease / epidemiology*
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Prevalence
  • Synucleins
  • alpha-Synuclein

Substances

  • DNA Primers
  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein