Soloviov , Livshits L.A.

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

TSitologiia i genetika 2009, v 43, Issue 4, 20-24

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.

Key words: DGGE, gene, mutations, DNA diagnostics, phenylketonuria, cystic fibrosis

Soloviov , Livshits L.A. Screening for mutation variants in exons 5, 7, 12 PAH gene using denaturing gradient gel-electrophoresis // Tsitol Genet. – 2009. – 43(4). – P. 20-24.