medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-254Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHК вопросу о преконцепционной профилактике наследственных болезней: случай выявления носительства редкой мутации у донора яйцеклеток и реципиентовTo the question of the preconception expanded carrier screening of hereditary diseases: the case of the rare mutation detection in donor of ovum and recipientsЩагинаО. А.ShchaginaO. A.noemail@neicon.ruПоляковА. В.PolyakovA. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian Federation2017190920171641923Copyright © Щагина О.А., Поляков А.В., 20172017Щагина О.А., Поляков А.В.Shchagina O.A., Polyakov 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/254

В статье представлен уникальный случай выявления носительства редкой мутации у донора половых клеток и реципиета. Изложена информация о существующих на сегодняшний день молекулярно-генетических подходах к преконцепционной профилактике наследственных болезней с аутосомно-рецессивным типом наследования, приведены их достоинства и недостатки. Представлены результаты определения популяционной частоты носительства мутации c.301_302delAG (p.S101fsX) гена PROP1 с использованием медицинской технологии «Система детекции частой мутации гена PROP1 , ответственной за комбинированный дефицит гормонов гипофиза», внедренной в практику ФГБНУ МГНЦ. Установлено, что аллельная частота данной делеции составляет 0,4%, расчетная частота носительства аутосомно-рецессивного дефицита гормонов гипофиза составляет 1,6% ± 0,13, а расчетная частота заболевания - 1 на 16 000 населения, что совпадает с известными частотами встречаемости гипопитуитаризма.

The article presents a unique case of detection of a rare mutation both in the donor and recipient of sex cells. The article contains information on molecular genetic approaches to the preconception expanded carrier screening. The medical technology «Detection system for frequent mutation of the PROP1 gene responsible for the combined deficiency of pituitary hormones» was using for population frequency of the mutation c.301_302delAG (p.S101fsX) of the PROP1 gene detection. It was found that the allelic frequency of this deletion is 0.4, the estimated carrier frequency of autosomal recessive hormone deficiency is 1.6% ± 0.13, and the estimated frequency of the disease is 1 per 16 000.

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