Открыты 14 новых генетических отклонений в развитии человека

Существует 14 ранее неизвестных отклонений, вызываемых у детей спонтанными мутациями, которых нет ни у одного из родителей.

 

Самое масштабное на сегодняшний день генетическое исследование детей выявило 14 новых отклонений в развитии. О результатах ученые сообщают в журнале Nature.

 

На данный момент существует более тысячи генетических отклонений, которые могут приводить к аутизму, эпилепсии, порокам сердца или умственной отсталости. Однако некоторые расстройства настолько редки, что их генетические причины не определены. Чтобы заполнить этот пробел в имеющейся информации, ученые обработали более 20 тысяч генетических проб, взятых у более чем 4 тысяч семей. 

 

Изучение мутаций генов, связанных с отклонениями развития, показало, что существует как минимум еще 14 ранее неизвестных отклонений, вызываемых у детей спонтанными мутациями, которых нет ни у одного из родителей.

 

Диагностика позволит родителям детей с отклонениями получить информацию о болезни и медицинскую поддержку. Также это дает возможность специалистам разделять детей на группы в зависимости от заболевания и оказывать им соответствующую помощь.

В США впервые одобрили генетический эксперимент на людях

 

Ранее ученые обнаружили, что чем больше «умных» генов содержит в себе геном человека, тем меньше детей он или она производят на свет.

По материалам:

Газета.Ru

Источник: korrespondent.net

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