[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 24(3): 302-4, 2007 Jun.
Article
em Zh
| MEDLINE
| ID: mdl-17557242
ABSTRACT
OBJECTIVE:
To detect mutations of guanosine triphosphate cyclohydrolase I (GCH1) gene in Chinese patients with dopa responsive dystonia (DRD).METHODS:
Six sporadic patients with DRD were examined. GCH1 gene mutations were detected using polymerase chain reaction (PCR), DNA sequence analysis and restriction enzyme digestion analysis. One hundred normal people were detected using PCR and restriction enzyme digestion analysis.RESULTS:
A new point mutation, 151(G-->A) in exon one was found in a patient. It lead to substitution of a methionine for isoleucine at amino acid 1(M1I). This mutation was not found in normal control people.CONCLUSION:
The authors report a new heterozygotic point mutation 151(G-->A) in GCH1 gene. There are GCH1 gene mutations in Chinese sporadic patients with DRD.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Di-Hidroxifenilalanina
/
Mutação Puntual
/
Povo Asiático
/
Distonia
/
GTP Cicloidrolase
Tipo de estudo:
Observational_studies
Limite:
Female
/
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2007
Tipo de documento:
Article