Parkin mutations in familial and sporadic Parkinson's disease among Indians.
We observed a mutation frequency of 8.5% in Parkin gene among Indian PD patients based on sequencing and gene dosage analysis of its exons. We identified nine point mutations of which seven are novel and hitherto unreported. These mutations accounted for 14.3% familial PD, 6.9% young onset and 5.9% late onset sporadic PD. Of the 20 PD patients with mutations only two had homozygous mutations and one was a compound heterozygote. Homozygous exonic deletions were absent but heterozygous exon rearrangements were observed in 9.2% of patients (19% familial PD and 4.5% young onset sporadic PD).
Chaudhary
Shashi
S
Department of Genetics, University of Delhi, South Campus, Benito Juarez Road, New Delhi 110021, India.
Behari
Madhuri
M
Dihana
Maninder
M
Swaminath
Pazhayannur V
PV
Govindappa
Shyla T
ST
Jayaram
Sachi
S
Goyal
Vinay
V
Maitra
Arindam
A
Muthane
Uday B
UB
Juyal
R C
RC
Thelma
B K
BK
D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012727:Sex Characteristics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D004247:DNA; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein