Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism.
- VernacularTitle:家族性常染色体隐性遗传早发性帕金森综合征ATP13A2基因突变研究
- Author:
Dan HE
1
;
Ji-feng GUO
;
Lei WANG
;
Zhi-quan XIAO
;
Li-luo NIE
;
Xue-wei ZHANG
;
Bei-sha TANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Age of Onset; Asian Continental Ancestry Group; genetics; Base Sequence; China; epidemiology; DNA Mutational Analysis; Female; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Parkinsonian Disorders; epidemiology; genetics; Pedigree; Polymorphism, Genetic; Proton-Translocating ATPases; genetics
- From: Chinese Journal of Medical Genetics 2009;26(5):567-570
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).
METHODSMutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.
RESULTSNo 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.
CONCLUSIONATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.
