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.