References

medgen

Медицинская генетика

Medical Genetics

2073-7998

Publishing House «Genius Media» LLC

medgen-264

Research Article

НАУЧНЫЕ ОБЗОРЫ

REVIEW

Использование высокоразрешающего анализа кривых плавления ДНК в диагностике наследственных заболеваний

Application of high-resolution DNA melting analysis in diagnostics of hereditary diseases

Никитина

Д. И.

Nikitina

D. I.

noemail@neicon.ru

Маретина

М. А.

Maretina

M. A.

noemail@neicon.ru

Егорова

А. А.

Egorova

A. A.

noemail@neicon.ru

Масленников

А. Б.

Maslennikov

A. B.

noemail@neicon.ru

Киселев

А. В.

Kiselev

A. V.

ankiselev@yahoo.co.uk

Санкт-Петербургский Государственный УниверситетРоссияSaint-Petersburg State UniversityRussian Federation

Научно-исследовательский институт акушерства, гинекологии и репродуктологии им. Д.О. Отта; Санкт-Петербургский Государственный УниверситетРоссияD.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; Saint-Petersburg State UniversityRussian Federation

Научно-исследовательский институт акушерства, гинекологии и репродуктологии им. Д.О. ОттаРоссияD.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyRussian Federation

ГБУЗ НСО «Городская клиническая больница №1»РоссияThe Novosibirsk State Regional Clinical Diagnostic CenterRussian Federation

2017

19092017

1652633

2017

Никитина Д.И., Маретина М.А., Егорова А.А., Масленников А.Б., Киселев А.В.

Nikitina D.I., Maretina M.A., Egorova A.A., Maslennikov A.B., Kiselev A.V.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.medgen-journal.ru/jour/article/view/264

В обзоре рассмотрены молекулярные основы и возможности метода идентификации мутаций с использованием высокоразрешающего анализа кривых плавления ДНК. Последние разработки значительно улучшили потенциал данной технологии. С появлением «насыщающих» красителей ДНК и развитием приборов для измерения характеристик плавления была существенно увеличена чувствительность и специфичность высокоразрешающего анализа кривых плавления ДНК. Метод HRM (High Resolution Melting) не требует флуоресцентных зондов, не подвергает разрушению анализируемый образец и обладает высокой разрешающей способностью. Благодаря простоте, специфичности и высокой чувствительности метод HRM активно используется в лабораториях для сканирования и генотипирования ДНК при диагностике наследственных заболеваний.

Here we have reviewed the molecular basics and capabilities of the high-resolution DNA melting curve analysis for mutation identification. The potential of this technique has been significantly improved by recent developments. The sensitivity and specificity of the high-resolution analysis of DNA melting curves significantly increased because of the emergence of «saturating» DNA dyes and due to the development of instruments for precise measuring the melting changes. HRM analysis (High Resolution Melting) does not require fluorescent probes, does not damage the sample and has high resolving power. Because of its simplicity, specificity, and high sensitivity this method is prevalent in laboratories for DNA scanning and genotyping for the purpose of diagnostics of hereditary diseases.

анализ кривых плавления ДНКметод HRMнаследственные болезниhigh-resolution DNA melting analysisHRM analysishereditary diseases

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The authors declare that there are no conflicts of interest present.