학술논문

Mutations in the α-synuclein gene in Parkinson's disease among Indians
Document Type
Academic Journal
Source
Acta Neurologica Scandinavica. Feb 01, 2001 103(2):120-122
Subject
Language
English
ISSN
0001-6314
Abstract
OBJECTIVE: To investigate the prevalence of G88C, G209A and any other mutation(s) in exons 3 and 4 of the α-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.