Combined fluorescence in situ hybridization and PRINS for the analysis of the Dystrophin gene.
Methods Mol Biol
; 334: 115-22, 2006.
Article
em En
| MEDLINE
| ID: mdl-16861757
ABSTRACT
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused in most cases by deletions of the DMD gene. These rearrangements are detectable in affected boys and men by a simple multiplex polymerase chain reaction approach. However, this technique is not able to disclose DMD deletions in heterozygous female carriers, and different approaches must be used in these cases. Here, we describe an approach based on the combined use of primed in situ labeling and fluorescence in situ hybridization techniques for the detection of single DMD exons in fixed metaphase chromosomes and interphase nuclei of both male and female subjects, suggesting the usefulness of this tool in the detection of small intragenic deletions of the DMD gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofina
/
Hibridização in Situ Fluorescente
/
Marcação in Situ com Primers
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Methods Mol Biol
Assunto da revista:
BIOLOGIA MOLECULAR
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Itália