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

Bashmakova, Eugenia E.; Krasitskaya, Vasilisa V.; Bondar, Alexander A.; Еремина, Е. Н.; Slepov, E. V.; Зуков, Р. А.; Frank, Ludmila A.

doi:10.1016/j.talanta.2018.06.057

Cited by 5 publications

(3 citation statements)

References 14 publications

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“…На основе этих репортеров был разработан способ выявления однонуклеотидных полиморфизмов, пригодный для проведения быстрого локального скриннинга распространенности генотипов в популяции, а также выявления взаимосвязи с генетической предрасположенностью к заболеванию. Так, были исследованы полиморфизмы в гене рецептора меланокортина-1 (MС1R), ассоциированные с риском возникновения меланомы кожи [24]; полиморфизмы, связанные с нарушениями системы гемостаза [25]; ряд полиморфизмов, предположительно связанных с риском возникновения нейросенсорной тугоухости [26]; полиморфизм rs9904341 в регуляторной области гена онкомаркера сурвивина с риском возникновения рака мочевого пузыря [27,28]. Анализ занимает 2 ч (вместе с наработкой матрицы) и существенно проще современных методов генотипирования на основе РТ ПЦР и секвенирования, а различие (более чем на порядок) значений дискриминационного фактора обеспечивает его достоверность.…”

Section: + -регулируемые фотопротеины -свойства и применениеunclassified

Coelenterazine-Dependent Luciferases: Properties and Application

FRANK,

KRASITSKAYA

2024

Lomonosov Chemistry Journal

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The review presents data on the structure of bioluminescent systems of marine animals that use coelenterazine-dependent luciferases as light-emitting proteins. It has been shown that due to the availability, stability and high quantum yield of reactions, these luciferases, as well as their genetic variants with new useful properties, are successfully applied as reporter molecules in a variety of analytical systems in vitro and in vivo. Their use provides high sensitivity, simple design and fast analysis.

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Section: + -регулируемые фотопротеины -свойства и применениеunclassified

Coelenterazine-Dependent Luciferases: Properties and Application

FRANK,

KRASITSKAYA

2024

Lomonosov Chemistry Journal

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“…Наличие аллелей определяют по биолюминесцентному сигналу соответствующих репортеров: зеленый сигнал регистрируется при наличии аллеля G, фиолетовый -аллеля С. Отношение этих сигналов -дискриминационный фактор D -отражает аллельный состав образца ДНК. Данный способ был нами ранее успешно использован при исследовании полиморфизмов, связанных с предрасположенностью к возникновению меланомы кожи [17], нарушениями гемостаза [18], склонностью к развитию нейросенсорной тугоухости [19]. Надежность этого способа генотипирования обеспечивает существенная (около порядка) разница между значениями дискриминационного фактора D для каждого генотипа.…”

Section: результатыunclassified

Relationship of -31G/C (rs9904341) polymorphism in the survivin gene <i>BIRC5</i> and the risk of bladder cancer

et al. 2022

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Purpose: To study the relationship between the -31G/C (rs9904341) polymorphism in the promoter region of the survivin protein gene and the predisposition to bladder cancer (BC) in patients of the Krasnoyarsk region. Material and methods. The allelic composition of the studied gene was determined in a group of 158 BC patients, consisting of 30 women and 128 men (mean age 65.6 ± 10.7, median: 66.5; C25–C75: 59–72). The control group included 117 healthy donors and consisted of 27 women and 90 men with an average age of 60.2 ± 5.1 (median: 60; C25–C75: 57–63.25). The allelic composition was determined using the bioluminescent method. A sample with the GC genotype confirmed by sanger sequencing (center for collective use “genomika”, Novosibirsk, Russia) was used as a control. The Mann–Whitney U test was used to compare quantitative data. the studied sample was in Hardy–Weinberg equilibrium (p>0.5). The pearson χ2 test was used to compare the frequencies of gene variants among BC cases and control samples. The association between variants rs9904341 and BC was assessed in terms of odds ratio (OR) with a 95 % confidence interval (CI); p values<0.05 were considered significant. Results. The allelic composition was determined for the genes of patients and control group participants: GG – 62 (39.2%) vs 43 (36.8%); GC – 82 (51.9%) vs 54 (46.2%); CC – 14 (8.9%) vs 20 (17.15%). The relationship between the presence of the C allele and BC was assessed using the recessive inheritance model, combining all carriers – heterozygotes and homozygotes. The frequency of occurrence of genotypes for patients and the control group was established: GG + GC – 144 (91.1%) vs 97 (82.9%); CC – 14 (8.9%) vs 20 (17.1%). Thus, carriers of the CС genotype were significantly less in patients: OR (95% CI) 0.47 (0.23–0.98), p=0.04. The relationship with tumor invasion was not significant (p=0.08). Conclusion. Based on the results of detecting the rs9904341 (G/C) polymorphism among BC patients of the Krasnoyarsk region, a protective effect of the carriage of the CC genotype was found. In order to study the allelic composition with the threat of recurrence of the disease, additional research is needed.

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“…Based on the colored obelin reporters, the microassay of products of the primer extension reaction during the SNP identification was also developed [ 69 ]. The method was successfully applied to identify: four SNPs associated with the risk of hemostasis disorders [ 71 ] and three SNPs in gene of melanocortin-1 receptor (MC1R), associated with melanoma and non-melanoma skin cancer risk [ 72 , 73 ]. All results were in complete agreement with those obtained with the use of conventional RT-PCR techniques or Sanger sequences, but bioluminescent analysis is faster and cheaper.…”

Section: Analytical Application Of Ca 2+ -Regulmentioning

confidence: 99%

Coelenterazine-Dependent Luciferases as a Powerful Analytical Tool for Research and Biomedical Applications

Krasitskaya

Bashmakova

Frank

2020

IJMS

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: The functioning of bioluminescent systems in most of the known marine organisms is based on the oxidation reaction of the same substrate—coelenterazine (CTZ), catalyzed by luciferase. Despite the diversity in structures and the functioning mechanisms, these enzymes can be united into a common group called CTZ-dependent luciferases. Among these, there are two sharply different types of the system organization—Ca2+-regulated photoproteins and luciferases themselves that function in accordance with the classical enzyme–substrate kinetics. Along with deep and comprehensive fundamental research on these systems, approaches and methods of their practical use as highly sensitive reporters in analytics have been developed. The research aiming at the creation of artificial luciferases and synthetic CTZ analogues with new unique properties has led to the development of new experimental analytical methods based on them. The commercial availability of many ready-to-use assay systems based on CTZ-dependent luciferases is also important when choosing them by first-time-users. The development of analytical methods based on these bioluminescent systems is currently booming. The bioluminescent systems under consideration were successfully applied in various biological research areas, which confirms them to be a powerful analytical tool. In this review, we consider the main directions, results, and achievements in research involving these luciferases.

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

Cited by 5 publications

References 14 publications

Coelenterazine-Dependent Luciferases: Properties and Application

Coelenterazine-Dependent Luciferases: Properties and Application

Relationship of -31G/C (rs9904341) polymorphism in the survivin gene <i>BIRC5</i> and the risk of bladder cancer

Coelenterazine-Dependent Luciferases as a Powerful Analytical Tool for Research and Biomedical Applications

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