Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Mitochondrion
; 8(2): 136-45, 2008 Mar.
Article
en En
| MEDLINE
| ID: mdl-18078792
Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a mismatch-specific DNA endonuclease named " Surveyor Nuclease", for screening the entire mtDNA in a group of 50 patients with neuromuscular features, suggesting a respiratory chain dysfunction. We identified mtDNA mutations in 20% of patients (10/50). Among the identified mutations, four are not found in any mitochondrial database and have not been reported previously. We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel).
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Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Pruebas Genéticas
/
Endonucleasas
/
Enfermedades Neuromusculares
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
Idioma:
En
Revista:
Mitochondrion
Año:
2008
Tipo del documento:
Article
País de afiliación:
Francia