Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
Neuromuscul Disord
; 14(11): 750-3, 2004 Nov.
Article
en En
| MEDLINE
| ID: mdl-15482961
ABSTRACT
The most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family of ATPases. In the current study, we designed a denaturing high-performance liquid chromatography based protocol for the analysis of the SPG4 gene. Using this method, we detected two novel missense mutations, 1375A > G (R459G) and 1378C > T (R460C), one previously described five bases deletion (1215_1219del) and three polymorphic changes. This study suggests that denaturing high-performance liquid chromatography would be a fast and reliable tool in the investigation of the molecular defects in the SPG4 gene.
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Bases de datos:
MEDLINE
Asunto principal:
Proteínas de Unión al Calcio
/
Análisis Mutacional de ADN
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Paraplejía Espástica Hereditaria
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Cromatografía Líquida de Alta Presión
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Mutación Missense
Límite:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2004
Tipo del documento:
Article
País de afiliación:
Italia