Detection of dystrophin deletion carriers using FISH analysis

S. Calvano, E. Memeo, M. R. Piemontese, S. Melchionda, L. Bisceglia, P. Gasparini, L. Zelante

Research output: Contribution to journalArticlepeer-review

Abstract

The detection of carrier status in female relatives of Duchenne/Becker muscular dystrophy patients is not always possible and this poses a problem in genetic counseling. We have developed a simple method that can be used in families in which affected males are characterized by the presence of a deletion within the dystrophin gene. PCR fragments, corresponding to the deleted regions are used as fluorescent probes for hybridization of peripheral lymphocytes nuclei of female relatives. The results obtained clearly demonstrate the feasibility of this method for detecting female DMD/BMD carriers.

Original languageEnglish
Pages (from-to)17-22
Number of pages6
JournalClinical Genetics
Volume52
Issue number1
Publication statusPublished - 1997

Keywords

  • Carrier diagnosis
  • Duchenne muscular dystrophy
  • FISH analysis
  • PCR

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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