Dystrophin exon specific probes

Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are X-linked recessive neuromuscular diseases caused by mutations in the Dystrophin gene. Approximately 65% of mutations of the gene are large deletions which are not evenly distributed but are concentrated in “hot-spots”. Given the X-linked recessive pattern of inheritance, the recurrence risk for the disease is extremely high, making carrier detection very important.

Cytocell offers a complete range of Dystrophin exon specific probes directed at the exon specific hot spots which are available in the Aquarius® liquid format. Each probe contains one or more exons and is approximately 40 kb. The exons are accompanied by an X chromosome a-satellite probe to provide an internal hybridisation control and effective chromosome identification. The probes are available independently and directly labelled: the Dystrophin exon specific probes with a red fluorophore (Texas Red spectrum) and the a-satellite with a green fluorophore (FITC spectrum).

The Aquarius Dystrophin exon specific probe range combines the FISH technique with a set of Dystrophin exon-specific FISH probes providing an alternative approach to molecular methods currently used to identify Dystrophin gene deletions in female relatives of diagnosed affected males and to identify Dystrophin gene deletions in clinically affected but not yet diagnosed males.

The probe mixtures are designed for fluorescence in situ hybridisation of metaphase chromosomes and interphase nuclei from cultured peripheral blood cells.

These products are not available in the USA.

Related Products

Chromoprobe Multiprobe-DMD System

The Chromoprobe Multiprobe-DMD System allows the simultaneous analysis of different exons of the Dystrophin gene on one slide in one single hybridisation. It combines a Multiprobe glass device of 24 squares with a set of Dystrophin exon specific probes. Each square of the Multiprobe device carries a Dystrophin exon specific probe and an X chromosome a-satellite probe as an internal control probe. The test and control probes are differentially labelled: the Dystrophin exon specific probe in red (Texas Red spectrum) and the control probe in either a green or blue fluorophore (FITC or Coumarin spectra respectively).