medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-339Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWМетоды полногеномной амплификации генетического материала едничных клетокWhole genome amplification as a method for analysis of single cellsТвеленёваА. А.TvelenevaA. A.al_bardashevskaya@mail.ruМусатоваЕ. В.MusatovaE. V.noemail@neicon.ruШиловаН. В.ShilovaN. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian Federation201720022018161136Copyright © Твеленёва А.А., Мусатова Е.В., Шилова Н.В., 20182018Твеленёва А.А., Мусатова Е.В., Шилова Н.В.Tveleneva A.A., Musatova E.V., Shilova N.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/339

Анализ генетического материала единичных клеток является весьма актуальной задачей для таких областей науки, как онкология, судебная медицина, преимплантационная генетическая диагностика. Полногеномная амплификация является неотъемлемым этапом в исследовании единичных клеток. Среди методов полногеномной амплификации выделяют методы, основанные на термоциклировании, и изотермические методы. Каждый из методов полногеномной амплификации должен обеспечивать максимально возможную представленность и пропорциональность всех участков исследуемого генома, а также обладать минимальным смещением, то есть наиболее точно представлять первичную последовательность ДНК в продуктах полногеномной амплификации. На вышеперечисленные характеристики могут влиять используемые в методах полногеномной амплификации типы праймеров, полимеразы, а также исходное качество и количество исследуемой ДНК. Поэтому в зависимости от используемого протокола качество амплификации может значительно различаться, что, несомненно, должно учитываться при выборе метода полногеномной амплификации в соответствии с поставленной целью исследования.

Analysis of the genetic material of single cells is a very urgent task for such fields of science as oncology, forensic medicine, preimplantation genetic diagnosis. Whole genome amplification is an indispensable stage in the study of single cells. Among methods of whole genome amplification, methods based on thermocycling and isothermal methods are distinguished. Each of the methods of whole genome amplification should ensure the maximum possible representation and proportionality of all parts of the investigated genome, and also have a minimal bias, that is, it is most accurate to represent the primary DNA sequence in products of whole genome amplification. These characteristics can be influenced by the types of primers, polymerases used in the methods of whole genome amplification, as well as the initial quality and quantity of the DNA being studied. Therefore, depending on the protocol used, the quality of the amplification may vary significantly, which should undoubtedly be taken into account when choosing the method of whole genome amplification in accordance with the intended purpose of the study.

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