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[Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2009 Oct; Vol. 26 (5), pp. 567-70. - Publication Year :
- 2009
-
Abstract
- Objective: To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).<br />Methods: Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.<br />Results: 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.<br />Conclusion: ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.
- Subjects :
- Adult
Age of Onset
Base Sequence
China epidemiology
DNA Mutational Analysis
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Genetic
Asian People genetics
Parkinsonian Disorders epidemiology
Parkinsonian Disorders genetics
Proton-Translocating ATPases genetics
Subjects
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 26
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 19806583
- Full Text :
- https://doi.org/10.3760/cma.j.issn.1003-9406.2009.05.020