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.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-287373
Biblioteca responsável:
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>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Polimorfismo Genético
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
China
/
Epidemiologia
/
ATPases Translocadoras de Prótons
/
Idade de Início
/
Transtornos Parkinsonianos
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo