Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
Neuromuscul Disord
; 14(11): 750-3, 2004 Nov.
Article
in 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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Calcium-Binding Proteins
/
DNA Mutational Analysis
/
Spastic Paraplegia, Hereditary
/
Chromatography, High Pressure Liquid
/
Mutation, Missense
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
2004
Type:
Article
Affiliation country:
Italy