Screening for mutation variants in exons 5, 7, 12 PAH gene using denaturing gradient gel-electrophoresis

The assays for analysis of the most frequent mutations of PAH gene in Ukraine (R158Q, R408W, Y414C, P281L, R252W, R261Q) for RKU patients and healthy people using denaturing gradient gel-electrophoresis (DGGE) were developed. The study of spectrum of mutations in exons 5,7,12 PAH gene using DGGE technique and further sequencing of unidentified mutant variants was held.

Keywords: DGGE, gene, mutations, DNA diagnostics, phenylketonuria, cystic fibrosis