Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay

• Authors: STEHLÍKOVÁ Kristýna; ZAPLETALOVÁ Eva; SEDLÁČKOVÁ Jana; HERMANOVÁ Markéta; VONDRÁČEK Petr; MAŘÍKOVÁ Taťána; MAZANEC Radim; ZÁMEČNÍK Josef; VOHÁŇKA Stanislav; FAJKUS Jiří; FAJKUSOVÁ Lenka
• Year of publication: 2007
• Type: Article in Periodical
• Magazine / Source: Neuromuscular Disorders
• MU Faculty or unit: Faculty of Medicine
• Field: Genetics and molecular biology
• Keywords: LGMD2A; CAPN3; Calpain-3; Real-time RT-PCR; Nonsense-mediated mRNA decay
• Description: We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level using reverse transcription-PCR, and at the DNA level using PCR and denaturing high performance liquid chromatography. The relationship observed in 12 patients between the quantity of CAPN3 mRNA, determined using real-time PCR, and the genotype leads us to propose that CAPN3 mRNAs which contain frame-shift mutations are degraded by nonsense-mediated mRNA decay

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