Quantitative analysis of the dystrophin gene by real-time PCR

Archives of Biological Sciences

卷:64

关键词: Duchenne/Becker muscular dystrophy;    Real-time PCR;    SYBR® Green;    ΔΔCt method;    carrier detection;   

DOI  :  10.2298/ABS1202787M

来源: DOAJ

【 摘 要 】

Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linkedneuromuscular disorders caused by mutations in the dystrophin gene. Our aimwas to optimize a quantitative real-time PCR method based on SYBR® Green Ichemistry for routine diagnostics of DMD/BMD deletion carriers. Twenty femalerelatives of DMD/BMD patients with previously detected partial gene deletionswere studied. The relative quantity of the target exons was calculated by acomparative threshold cycle method (ΔΔCt). The carrier status of all subjectswas successfully determined. The gene dosage ratio for non-carriers was1.07±0.20, and for carriers 0.56±0.11. This assay proved to be simple, rapid,reliable and cost-effective.

【 授权许可】

Unknown