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.
Tan
Eng-King
EK
Division of Research, SingHealth, Singapore General Hospital, Outram Road, Singapore 169608, Singapore. gnrtek@sgh.com.sg
Tan
Chris
C
Zhao
Yi
Y
Yew
Kenneth
K
Shen
Hui
H
Chandran
V R
VR
Teoh
Mei-Lin
ML
Yih
Yuan
Y
Pavanni
Ratnagopal
R
Wong
Meng-Cheong
MC
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