Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 567-570, 2009.
Article
in Zh
| WPRIM
| ID: wpr-287373
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).</p><p><b>METHODS</b>Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.</p><p><b>RESULTS</b>No pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A.</p><p><b>CONCLUSION</b>ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Polymorphism, Genetic
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Epidemiology
/
Proton-Translocating ATPases
/
Age of Onset
/
Parkinsonian Disorders
Type of study:
Prognostic_studies
Limits:
Adult
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Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article