Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism.
- Author:
Ji-feng GUO
1
;
Bei-sha TANG
;
Yu-hu ZHANG
;
Kun XIA
;
Fang CAI
;
Qian PAN
;
Lu SHEN
;
Hong JIANG
;
Guo-hua ZHAO
;
Xin-xiang YAN
;
Li CAO
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Age of Onset; Base Sequence; China; epidemiology; DNA Mutational Analysis; methods; Female; Humans; Intracellular Signaling Peptides and Proteins; genetics; Mutation; Oncogene Proteins; genetics; Parkinsonian Disorders; epidemiology; genetics; Polymerase Chain Reaction; Protein Deglycase DJ-1; Young Adult
- From: Chinese Journal of Medical Genetics 2005;22(6):641-643
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP).
METHODSMutations of DJ1 gene were screened by polymerase chain reaction combined with DNA direct sequencing in index patients with AR-EP from 11 unrelated families.
RESULTSNo pathogenetic mutations in the DJ1 gene were detected in this group. Six intronic DJ1 polymorphisms (IVS1-15T-->C, IVS4+30T-->G, IVS4+45G-->A, IVS4+46G-->A, IVS5+31G-->A, g.168-185del) were found. Three of them (IVS1-15T-->C, IVS4+45G-->A, IVS4+46G-->A) were not reported previously.
CONCLUSIONDJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.
