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Screening for mutation variants in exons 5, 7, 12 PAH gene using denaturing gradient gel-electrophoresis
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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
|Coded & Designed by Volodymyr Duplij||Modified 29.05.23|