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Vol 49(2015) N 6 p. 852-857; DOI 10.1134/S0026893315050039  E.E. Bashmakova1,2,3, V.V. Krasitskaya3, A.A. Bondar4, A.V. Kozlova5, T.G. Ruksha5, L.A. Frank1,2,3* A bioluminescent assay for detecting melanocortin-1 receptor (MC1R) gene polymorphisms R160W, R151C, and D294H 1Siberian Federal University, Krasnoyarsk, 660041 Russia;2Blokhin Cancer Research Center, Moscow, 115478 Russia 3Institute of Biophysics, Siberian Branch of the Russian Academy of Sciences, Krasnoyarsk, 660036 Russia 4Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, 630090 Russia 5Voino-Yasenetskii Krasnoyarsk State Medical University, Krasnoyarsk, 660022 Russia *lfrank@yandex.ru Received - 2015-02-26; Accepted - 2015-04-06 Several polymorphisms in the melanocortin-1 receptor gene (MC1R) have been associated with melanoma risk. In particular, rs1805007, rs1805008, and rs1805009 mutations, which result in R151C, R160W, and D294H amino acid substitutions, respectively, and are associated with the phenotype of red-hair mutations, have also been connected with melanoma and nonmelanoma skin cancer risks. This work describes a method of detecting these polymorphisms using primer extension with subsequent dual bioluminescent assay. Model plasmids carrying polymorphic MC1R fragments, as well as several clinical DNA samples, were tested using the proposed technique. The results agreed well with those obtained by Sanger sequencing. single nucleotide polymorphisms, melanoma, MC1R receptor, bioluminescent assay |
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