Нови геномни технологии при диагностиката на вродени аномалии

  • Марта Михайлова
  • Драга Тончева
  • Савина Хаджидекова
Keywords: вродени аномалии, секвениране от следващо поколение, микрочипова СГХ

Abstract

Вродените малформации и интелектуалният дефицит (ВМ/ИД) представляват сериозен проблем, поради тяхната висока честота (3-5%). ВМ/ИД са причина за 33% от неонаталната смъртност. В приблизително 40% от случаите генетичният дефект остава неясен. Много от тях имат хетерогенна етиология и затова те са трудни за диагностициране. Цитогенетичният метод не е достатъчен за поставяне на диагноза при голям процент от ВМ/ИД, които остават без уточнена етиология.

В пост–геномната ера новите диагностични подходи ще позволят по-добро разбиране на молекулните основи на вродените аномалии. Два от най-информативните методи за диагноза са микрочиповата сравнителна геномна хибридизация (array CGH, СГХ) и секвениране от следващо поколение (NGS). Тенденцията през последните години е тези технологии да се използват за откриване на кандидат гени за ВМ/ИД и диагностициране на пациенти с неуточнена клинична картина.

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Published
2016-06-15
How to Cite
1.
Михайлова М, Тончева Д, Хаджидекова С. Нови геномни технологии при диагностиката на вродени аномалии. Редки болести и лекарства сираци [Internet]. 2016Jun.15 [cited 2020Oct.31];7(2):3-. Available from: http://journal.raredis.org/index.php/RBLS/article/view/50
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