medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.12.60-63medgen-2219Research ArticleКРАТКОЕ СООБЩЕНИЕBRIEF REPORTОценка частоты рекомбинации в инверсионной петле у носителя полиморфной парацентрической инверсии 8p23.1Estimation of the frequency of recombination in the inversion loop in a carrier of polymorphic paracentric inversion 8p23.1ЮрченкоД. А.YurchenkoD. A.dashalbv@mail.ruТарлычеваА. А.TarlychevaA. A.noemail@neicon.ruМиньженковаМ. Е.MinzhenkovaM. E.noemail@neicon.ruМарковаЖ. Г.MarkovaZh. G.noemail@neicon.ruШиловаН. В.ShilovaN. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П.Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation20221301202321126063Copyright © Юрченко Д.А., Тарлычева А.А., Миньженкова М.Е., Маркова Ж.Г., Шилова Н.В., 20232023Юрченко Д.А., Тарлычева А.А., Миньженкова М.Е., Маркова Ж.Г., Шилова Н.В.Yurchenko D.A., Tarlycheva A.A., Minzhenkova M.E., Markova Z.G., 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/2219

Парацентрическая инверсия 8р23.1 является одной из самых протяженных полиморфных инверсий у человека. В результате патологической мейотической сегрегации парацентрической инверсии образуются гаметы и впоследствии зиготы с рекомбинантными хромосомами, а именно с хромосомным/геномным дисбалансом в виде инвертированной дупликации со смежной делецией (inv dup del) или с терминальной делецией (del). В исследовании впервые проведена оценка частоты рекомбинации в инверсионной петле у носителя полиморфной парацентрической инверсии 8р23.1. Установлено, что в мужском гаметогенезе при гетерозиготном носительстве данной инверсии частота мейотической рекомбинации составляет 0,03%.

The 8p23.1 paracentric inversion is the largest polymorphic inversion in the human genome. As a result of meiotic malsegregation of paracentric inversion, gametes and subsequently zygotes are formed with recombinant chromosomes, namely with a chromosomal genomic imbalance such as an inverted duplication with an adjacent deletion (inv dup del) or with a terminal deletion (del). In this study, for the first time, the frequency of recombination in the inversion loop was estimated in a carrier of polymorphic paracentric inversion 8p23.1. It was shown that the frequency with which meiotic recombination happens in male gametogenesis is 0.03%.

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