Bioluminescent SNP genotyping technique: Development and application for detection of melanocortin 1 receptor gene polymorphisms

Тип публикации: статья из журнала

Год издания: 2018

Идентификатор DOI: 10.1016/j.talanta.2018.06.057

Ключевые слова: Ca2+-regulated photoprotein obelin, Genotyping, Melanocortin 1 receptor gene, Single nucleotide polymorphisms (SNP)

Аннотация: SNP genotyping based on the reaction of specific primer extension with the following bioluminescent detection of its products was shown to be potentially applicable for biomedical exploration. The paper describes its elaboration and first application in extensive biomedical research concerning MC1R gene variants’ frequency and associations with clinical characteristics in melanoma patients of Eastern Siberia (Krasnoyarsk region, Russia). Polymorphisms rs 1805007 (R151C), rs 1805008 (R160W), and rs 1805009 (D294H) were detected in 174 DNA samples from patients with histologically proved diagnosis of cutaneous melanoma and in 200 samples from healthy individuals. All the results on bioluminescent SNP genotyping were confirmed by Sanger sequencing. Some features characteristic of the population were found, i.e. melanoma is mostly associated with R160W or R151C while variant D294H is extremely rare; simultaneous carriage of any two investigated variants is also strongly associated with melanoma; R151C is associated with ulceration and consequently the disease course is more aggressive, etc. The design of the technique allows fast evaluation of any known diagnostically important SNP frequencies and associations across population. © 2018 Elsevier B.V.

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Издание

Журнал: Talanta

Выпуск журнала: Vol. 189

Номера страниц: 111-115

Издатель: Elsevier B.V.

Авторы

  • Bashmakova E.E. (Siberian Federal University, Svobodny pr. 79, Krasnoyarsk, Russian Federation, Institute of Biophysics SB RAS, Federal Research Center “Krasnoyarsk Science Center SB RAS”, Akademgorodok 50/50, Krasnoyarsk, Russian Federation, Blokhin Cancer Research Center, Moscow, Russian Academy of Medical Sciences, Kashirskoye Shosse 24, Moscow, Russian Federation)
  • Krasitskaya V.V. (Institute of Biophysics SB RAS, Federal Research Center “Krasnoyarsk Science Center SB RAS”, Akademgorodok 50/50, Krasnoyarsk, Russian Federation)
  • Bondar A.A. (Institute of Chemical Biology and Fundamental Medicine, SB RAS, Novosibirsk Lavrentiev Avenue 8, Novosibirsk, Russian Federation)
  • Eremina E.N. (State Medical University named after V.F. Voyno-Yasenetsky, Partizana Zheleznyaka St. 1, Krasnoyarsk, Russian Federation, Regional Clinical Oncology Center named after A.I. Kryzhanovsky, 1 Smolenskaya Str.16, Krasnoyarsk, Russian Federation)
  • Slepov E.V. (Siberian Federal University, Svobodny pr. 79, Krasnoyarsk, Russian Federation, Regional Clinical Oncology Center named after A.I. Kryzhanovsky, 1 Smolenskaya Str.16, Krasnoyarsk, Russian Federation)
  • Zukov R.A. (State Medical University named after V.F. Voyno-Yasenetsky, Partizana Zheleznyaka St. 1, Krasnoyarsk, Russian Federation, Regional Clinical Oncology Center named after A.I. Kryzhanovsky, 1 Smolenskaya Str.16, Krasnoyarsk, Russian Federation)
  • Frank L.A. (Siberian Federal University, Svobodny pr. 79, Krasnoyarsk, Russian Federation, Institute of Biophysics SB RAS, Federal Research Center “Krasnoyarsk Science Center SB RAS”, Akademgorodok 50/50, Krasnoyarsk, Russian Federation, Blokhin Cancer Research Center, Moscow, Russian Academy of Medical Sciences, Kashirskoye Shosse 24, Moscow, Russian Federation)

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