Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 641-643, 2005.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-279980
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP).</p><p><b>METHODS</b>Mutations of DJ1 gene were screened by polymerase chain reaction combined with DNA direct sequencing in index patients with AR-EP from 11 unrelated families.</p><p><b>RESULTS</b>No 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.</p><p><b>CONCLUSION</b>DJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Base Sequence
/
China
/
Polymerase Chain Reaction
/
Epidemiology
/
Oncogene Proteins
/
Age of Onset
/
Parkinsonian Disorders
/
Intracellular Signaling Peptides and Proteins
/
Protein Deglycase DJ-1
Limits:
Adolescent
/
Adult
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Document type:
Article