Инд. авторы: Вайнер А.С., Жечев Д.А., Ширшова А.Н., Кудрявцева Е.А., Кечин А.А., Гордеева Л.А., Воронина Е.Н., Шабалдин А.В., Филипенко М.Л.
Заглавие: Система фолатного обмена и врожденные пороки развития: эффект материнского генотипа
Библ. ссылка: Вайнер А.С., Жечев Д.А., Ширшова А.Н., Кудрявцева Е.А., Кечин А.А., Гордеева Л.А., Воронина Е.Н., Шабалдин А.В., Филипенко М.Л. Система фолатного обмена и врожденные пороки развития: эффект материнского генотипа // Мать и дитя в Кузбассе. - 2012. - № 4. - С.7-12. - ISSN 1991-010X.
Внешние системы: РИНЦ: 18943858;
Реферат: rus: Фолиевая кислота необходима для нормального развития эмбриона. Генетические дефекты матери, приводящие к нарушению в системе фолатного обмена, могут повышать риск рождения ребенка с врожденными пороками развития. Поиску ассоциации полиморфизма генов фолатного цикла с риском врожденных аномалий у потомства к настоящему времени посвящено уже более полусотни работ. В настоящей обзорной статье приведен анализ исследований по изучению роли аллельных вариантов генов матери в этиологии двух больших групп аномалий развития - врожденных пороков нервной системы и системы кровообращения.
eng: Folic acid is essential for normal embryogenesis. Maternal genetic defects, which disturb folic acid metabolism, may increase the risk of having a child with congenital anomalies. To date, more than fifty studies are published investigating the association of polymorphisms in folate-metabolizing genes with the risk of congenital malformations. In this review we analyze research studies, devoting to the search of association of maternal allelic variants with the risk of two wide groups of congenital anomalies - congenital anomalies of the nervous and of the circulatory system.
Ключевые слова: congenital anomalies; polymorphism; полиморфный локус; генотип матери; фолиевая кислота; врожденные пороки развития; maternal genotype; folic acid;
Издано: 2012
Физ. характеристика: с.7-12
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