Year: 2012
Type: article
Abstract: Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to optimize a quantitative real-time PCR method based on SYBR? Green I chemistry for routine diagnostics of DMD/BMD deletion carriers. Twenty female relatives of DMD/BMD patients with previously detected partial gene deletions were studied. The relative quantity of the target exons was calculated by a comparative threshold cycle method (??Ct). The carrier status of all subjects was successfully determined. The gene dosage ratio for non-carriers was 1.07?0.20, and for carriers 0.56?0.11. This assay proved to be simple, rapid, reliable and cost-effective.
Source: Archives of Biological Sciences
DOI: 10.2298/abs1202787m
Institutions: University of Belgrade, University of Prishtina
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W2017019446