Quantitative analysis of the dystrophin gene by real-time PCR
2012
Maksimovic Nela | Anđelkovic Ana | Milic-Rasic Vedrana | Rakocevic-Stojanovic Vidosava | Kastratovic-Kotlica Biljana | Brankovic S. | Damnjanovic Tatjana | Jekic Biljana | Bunjevacki Vera | Lukovic Ljiljana | Perovic Dijana | Cvjeticanin Suzana | Novakovic Ivana
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 (ΔΔCt). 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.
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