DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions

Neurology
A Voskova-GoldmanL G Shaffer

Abstract

The challenge of Duchenne muscular dystrophy (DMD) carrier identification resides in the ability to identify the presence of a mutant gene over the background contributed by the normal allele. Current diagnosis of carrier status when a deletion has been identified in a proband is based on an analysis of a gene dosage. We present a diagnostic strategy that uses fluorescence in situ hybridization (FISH) to detect female carriers with major deletions in the dystrophin gene. We screened a human X-chromosome-derived genomic library with a full-length dystrophin cDNA and isolated 15 dystrophin-specific cosmids that contain DMD gene exons. Six cosmids were further tested as FISH probes in control individuals and subsequently applied on chromosomes from eight males with DMD and known deletions and on samples from three female carriers. As expected, X chromosomes in normal females displayed four signals, two for the DMD-specific probe and two for the X-chromosome centromeric probe. Hybridization on chromosomal spreads from carriers of deletions revealed only one signal from the DMD-specific probe and two from the control centromeric probe. Males carrying deletions showed no DMD-specific signal for the deleted exons tested. Our data indi...Continue Reading

Citations

Nov 26, 1998·Neuromuscular Disorders : NMD·C RosenbergJ T Den Dunnen
Jul 17, 1999·Neuromuscular Disorders : NMD·S J SchatzbergN J Sharp
Dec 4, 2003·Genetic Testing·Yanping XiaoRenli Wang
May 13, 2008·Genetic Testing·Ana Claudia Velázquez-WongRamón Coral-Vázquez
Apr 11, 2012·International Journal of Molecular Sciences·Liborio StuppiaValentina Gatta
Oct 29, 2002·Human Mutation·J A L ArmourG R Taylor
Nov 30, 2010·Seminars in Fetal & Neonatal Medicine·Lisa G Shaffer, Bassem A Bejjani
Apr 23, 2008·Current Protocols in Human Genetics·Johan T den Dunnen, Alan H Beggs
Oct 5, 2010·Current Protocols in Human Genetics·Catherine D KashorkLisa G Shaffer

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