Why the study?
Does FISH analysis using PCR fragments detect carrier status in female relatives of DMD/BMD patients?
Does FISH analysis using PCR fragments detect carrier status in female relatives of DMD/BMD patients?
FISH analysis using PCR fragments is a feasible method for detecting carrier status in female relatives of DMD/BMD patients with dystrophin gene deletions.
May support carrier screening in DMD/BMD families; leaves open validation before clinical adoption.
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.
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Calvano et al. (1997) studied this question.
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