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

Soloviov O.O., Livshits L.A.

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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

Tsitologiya i Genetika 2009, vol. 43, no. 4, pp. 20-24

E-mail: livshits imbg.org.ua

Soloviov O.O., Livshits L.A. Screening for mutation variants in exons 5, 7, 12 PAH gene using denaturing gradient gel-electrophoresis, Tsitol Genet., 2009, vol. 43, no. 4, pp. 20-24.