A bioluminescent assay for detecting melanocortin-1 receptor (MC1R) gene polymorphisms R160W, R151C, and D294H

Тип публикации: статья из журнала

Год издания: 2015

Идентификатор DOI: 10.1134/S0026893315050039

Ключевые слова: single nucleotide polymorphisms, melanoma, MC1R receptor, bioluminescent assay, bioluminescent assay, MC1R receptor, melanoma, single nucleotide polymorphisms

Аннотация: 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.

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Издание

Журнал: MOLECULAR BIOLOGY

Выпуск журнала: Vol. 49, Is. 6

Номера страниц: 852-857

ISSN журнала: 00268933

Место издания: NEW YORK

Издатель: MAIK NAUKA/INTERPERIODICA/SPRINGER

Авторы

  • Bashmakova E.E. (Institute of Biophysics,Siberian Branch of the Russian Academy of Sciences)
  • Frank L.A. (Institute of Biophysics,Siberian Branch of the Russian Academy of Sciences)
  • Krasitskaya V.V. (Institute of Biophysics,Siberian Branch of the Russian Academy of Sciences)
  • Bondar A.A. (Institute of Chemical Biology and Fundamental Medicine,Siberian Branch of the Russian Academy of Sciences)
  • Kozlova A.V. (Voino-Yasenetskii Krasnoyarsk State Medical University)
  • Ruksha T.G. (Voino-Yasenetskii Krasnoyarsk State Medical University)

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