POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN

The article is devoted to the prevalence of polymorphism of genes responsible for thrombophilia among children. The study included 52 children with thrombosis and 59 children without thrombosis. Detects mutations factor V Leiden, G20210A prothrombin gene, the C677T mutation in the gene for 5,10-meth...

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Autores principales:	L. V. Zhdanova, L. I. Patrushev, V. V. Dolgikh
Formato:	article
Lenguaje:	RU
Publicado:	Scientific Сentre for Family Health and Human Reproduction Problems 2013
Materias:	thrombosis hereditary thrombophilia children Science Q
Acceso en línea:	https://doaj.org/article/974387b4b73245478cf714fb1ac35269
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spelling	oai:doaj.org-article:974387b4b73245478cf714fb1ac352692021-11-23T06:14:28ZPOLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN2541-94202587-9596https://doaj.org/article/974387b4b73245478cf714fb1ac352692013-07-01T00:00:00Zhttps://www.actabiomedica.ru/jour/article/view/1615https://doaj.org/toc/2541-9420https://doaj.org/toc/2587-9596The article is devoted to the prevalence of polymorphism of genes responsible for thrombophilia among children. The study included 52 children with thrombosis and 59 children without thrombosis. Detects mutations factor V Leiden, G20210A prothrombin gene, the C677T mutation in the gene for 5,10-methylenetetrahydrofolate reductase and 4G/5G polymorphism of gene plasminogen activator inhibitor 1. Mutations thrombophilia markers are detected in 38 of 52 (73 %) children with thrombosis, and 36 of 59 (61 %) children without thrombosis (p=0,1). A combination of several mutations in genes had 38 of 69 (55 %) children having different polymorphisms. The highest percentage (86 %) of different combinations of mutations have children with venous thrombosis, wherein the presence of mutations in Factor V (Leiden) mutation and prothrombin gene was isolated, and in all cases with each other or combined with mutation of the MTHFR gene. The most significant in the development of thrombosis are the G20210A mutation in the prothrombin gene mutation and Leiden. An example of clinical thrombosis, the girl with the data mutations.L. V. ZhdanovaL. I. PatrushevV. V. DolgikhScientific Сentre for Family Health and Human Reproduction Problemsarticlethrombosishereditary thrombophiliachildrenScienceQRUActa Biomedica Scientifica, Vol 0, Iss 4, Pp 115-118 (2013)
institution	DOAJ
collection	DOAJ
language	RU
topic	thrombosis hereditary thrombophilia children Science Q
spellingShingle	thrombosis hereditary thrombophilia children Science Q L. V. Zhdanova L. I. Patrushev V. V. Dolgikh POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN
description	The article is devoted to the prevalence of polymorphism of genes responsible for thrombophilia among children. The study included 52 children with thrombosis and 59 children without thrombosis. Detects mutations factor V Leiden, G20210A prothrombin gene, the C677T mutation in the gene for 5,10-methylenetetrahydrofolate reductase and 4G/5G polymorphism of gene plasminogen activator inhibitor 1. Mutations thrombophilia markers are detected in 38 of 52 (73 %) children with thrombosis, and 36 of 59 (61 %) children without thrombosis (p=0,1). A combination of several mutations in genes had 38 of 69 (55 %) children having different polymorphisms. The highest percentage (86 %) of different combinations of mutations have children with venous thrombosis, wherein the presence of mutations in Factor V (Leiden) mutation and prothrombin gene was isolated, and in all cases with each other or combined with mutation of the MTHFR gene. The most significant in the development of thrombosis are the G20210A mutation in the prothrombin gene mutation and Leiden. An example of clinical thrombosis, the girl with the data mutations.
format	article
author	L. V. Zhdanova L. I. Patrushev V. V. Dolgikh
author_facet	L. V. Zhdanova L. I. Patrushev V. V. Dolgikh
author_sort	L. V. Zhdanova
title	POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN
title_short	POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN
title_full	POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN
title_fullStr	POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN
title_full_unstemmed	POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN
title_sort	polymorphism of genes responsible for thrombophilia and their influence on the development of thrombosis in children
publisher	Scientific Сentre for Family Health and Human Reproduction Problems
publishDate	2013
url	https://doaj.org/article/974387b4b73245478cf714fb1ac35269
work_keys_str_mv	AT lvzhdanova polymorphismofgenesresponsibleforthrombophiliaandtheirinfluenceonthedevelopmentofthrombosisinchildren AT lipatrushev polymorphismofgenesresponsibleforthrombophiliaandtheirinfluenceonthedevelopmentofthrombosisinchildren AT vvdolgikh polymorphismofgenesresponsibleforthrombophiliaandtheirinfluenceonthedevelopmentofthrombosisinchildren
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POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN

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