Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity.
Mutations in the DJ-1 gene have been described in autosomal recessive Parkinson's disease patients (ARPD) of European ancestry and young onset (YOPD) Ashkenazi Jewish and Afro-Caribbean patients. There is little information on the prevalence of DJ-1 mutations amongst Asian PD populations. In this study, we examined for DJ-1 mutations in consecutive YOPD and ARPD in a multi-ethnic cohort (Chinese, Malays, and Indians) of PD patients in a tertiary referral center. Sequence analysis of all the exons and the exon and intron boundaries of the DJ-1 gene were carried out. We did not find any DJ-1 mutations in these patients. A number of intronic variants with genotype frequency ranging from 15 to 90% were detected. Unlike Parkin, pathogenic DJ-1 mutations appear to be restricted to certain populations and are unlikely to be of clinical importance in our Asian cohort.
Division of Research, SingHealth, Singapore General Hospital, Outram Road, Singapore 169608, Singapore. gnrtek@sgh.com.sg
Eng-King
EK
Tan
Chris
C
Tan
Yi
Y
Zhao
Kenneth
K
Yew
Hui
H
Shen
V R
VR
Chandran
Mei-Lin
ML
Teoh
Yuan
Y
Yih
Ratnagopal
R
Pavanni
Meng-Cheong
MC
Wong
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D003710:Demography; D005006:Ethnicity; D005260:Female; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D012333:RNA, Messenger; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1