Details

Autor(en) / Beteiligte

• Tan, Eng-King
• Tan, Chris
• Zhao, Yi
• Yew, Kenneth
• Shen, Hui
• Chandran, V.R
• Teoh, Mei-Lin
• Yih, Yuan
• Pavanni, Ratnagopal
• Wong, Meng-Cheong

Titel

Genetic analysis of DJ-1 in a cohort Parkinson’s disease patients of different ethnicity

Ist Teil von

• Neuroscience letters, 2004-08, Vol.367 (1), p.109-112

Ort / Verlag

Shannon: Elsevier Ireland Ltd

Erscheinungsjahr

2004

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.