title: Parkin mutations in familial and sporadic Parkinson's disease among Indians.
abstract: 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).
authors.affiliation: Department of Genetics, University of Delhi, South Campus, Benito Juarez Road, New Delhi 110021, India.
authors.forename: Shashi
authors.initials: S
authors.lastname: Chaudhary
authors.forename: Madhuri
authors.initials: M
authors.lastname: Behari
authors.forename: Maninder
authors.initials: M
authors.lastname: Dihana
authors.forename: Pazhayannur V
authors.initials: PV
authors.lastname: Swaminath
authors.forename: Shyla T
authors.initials: ST
authors.lastname: Govindappa
authors.forename: Sachi
authors.initials: S
authors.lastname: Jayaram
authors.forename: Vinay
authors.initials: V
authors.lastname: Goyal
authors.forename: Arindam
authors.initials: A
authors.lastname: Maitra
authors.forename: Uday B
authors.initials: UB
authors.lastname: Muthane
authors.forename: R C
authors.initials: RC
authors.lastname: Juyal
authors.forename: B K
authors.initials: BK
authors.lastname: Thelma
mesh_terms: 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*
chemical_list: D004247:DNA; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein