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Aim. To develop diagnostic assays, based on the amplification refractory mutation system (ARMS) principle, for detection of common mutations in the CFTR gene using two approaches: standard PCR with further gel-electrophoresis and Real-Time PCR with SYBR Green. Materials. For this study we have chosen the following mutations: dF508, W1282X, R117H, 621 + 1G > T, 2143delT with the frequencies in Ukraine: dF508 – 43.3 %; 2143delT – 1.38 %; W1282X – 1.1 %; R117H, 621 + 1G > T – < 0.6 %. For the development and validation of the assay we have used control DNA samples with abovementioned mutations, which were previously examined using RFLP and heteroduplex analysis. Results. We have designed the primers and optimized the conditions of ARMS PCR performing for the analysis of dF508, W1282X, R117H, 621 + 1G > T, 2143delT mutations. To validate the developed assays we have analyzed control DNA samples with the following mutations: W1282X (n = 3), R117H (n = 2), 621 + 1G > T (n = 1), 2143delT (n = = 1). For validation of the dF508 assay we have analyzed 100 heterozygous carriers and 50 homozygous carriers. We have analyzed 48 patients with cystic fibrosis, in which only one mutation was previously detected in combination with unknown mutant variant, using the developed ARMS assay for the 2143delT mutation, and detected 4 heterozygous carriers. No differences were observed in comparison with the standard protocols. Conclusions. It was shown that ARMS is a reliable, rapid and inexpensive method, and the developed assays can be applied in the standard PCR protocol with further gel-electrophoresis as well as using Real-Time PCR with SYBR Green for the molecular genetic diagnostics of cystic fibrosis

Development of ARMS PCR tests for detection of common CFTR gene mutations