Article
Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis.
Genetic testing - 1 Jan 2004
Radivojevic Danijela, Djurisic Marina, Lalic Tanja, Guc-Scekic Marija, Savic Jovan, Minic Predrag, Antoniadi Thalia, Tzetis Maria, Kanavakis Emmanuel
Abstract excerpt
We have screened 175 patients for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene using nondenaturing polyacrylamide gel electrophoresis (PAGE), denaturing gradient gel electrophoresis (DGGE), and sequencing. Six different mutations (F508del, G542X, 621+1G --> T, 2789+5G --> A, R1070Q, and S466X) accounted for 79.71% of CF alleles, with the F508del mutation showing a...
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