medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2016-3-23-29medgen-102Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHДНК-диагностика гемофилии А с использованием новой медицинской технологии «Система детекции инверсии интрона 22 гена F8» в группе больных из Российской ФедерацииDNA diagnostics in Russian hemophilia patients with new medical technology «Detection system for F8 Intron 22 inversion»БескоровайнаяТ. С.BeskorovainayaT. S.noemail@neicon.ruМиловидоваТ. Б.MilovidovaT. B.noemail@neicon.ruЩагинаО. А.ShchaginaO. A.noemail@neicon.ruПоляковА. В.PolyakovA. V.polyakov@med-gen.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр»РоссияFederal State Budgetary Institution «Research Centre for Medical Genetics»Russian Federation2016071020161532329Copyright © Бескоровайная Т.С., Миловидова Т.Б., Щагина О.А., Поляков А.В., 20162016Бескоровайная Т.С., Миловидова Т.Б., Щагина О.А., Поляков А.В.Beskorovainaya T.S., Milovidova T.B., 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/102

В работе представлены результаты поиска наиболее частой мутации гена F8 - инверсии интрона 22 в 73 неродственных семьях, направленных в лабораторию ДНК-диагностики ФГБНУ «МГНЦ» для диагностики гемофилии. Для этого использовалась внедренная в практическую деятельность ФГБНУ «МГНЦ» новая медицинская технология «Система детекции инверсии интрона 22 гена F8 ». Установлено, что использование данной технологий делает более эффективным медико-генетическое консультирование отягощенных семей, позволяет с наименьшими временными и материально-техническими затратами провести ДНК-диагностику гемофилии А, в том числе диагностику носительства у родственников пробанда и пренатальную диагностику в отягощенных семьях.

Hemophilia A (HA) is a frequent X-linked recessive bleeding disorder resulted from deficiency or dysfunction of coagulation factor VIII (FVIII). It affects 1 of 5000 males. HA is caused by mutations in F8 gene located on chromosome Xq28 and consisted of 26 exons. More than 3000 mutations were described in the gene. The most common mutation is the intron 22 inversion (Inv22). It was found in 30-50% patients with severe HA. In this study we searched Inv22 in unrelated probands with diagnosis «Hemophilia» (40 patients) and relatives of probands whose material was not available (33 persons) from 73 Russian families using inverse shifting-PCR method. Inv22 was found in 33% cases. Mothers of probands with detected Inv22 were carriers of this mutation. Among the four probands with clinical diagnosis «hemophilia B» from the studied group Inv22 was found in one case.

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