Асоціація поліморфних варіантів генів фолатного обміну з анеуплоїдіями у спермі у чоловіків зі зниженою репродуктивною функцією
Анотація
Мета. Дослідити асоціацію поліморфних варіантів генів MTHFR (C677T, A1298C) та MTRR (A66G) з якісними показниками сперми у чоловіків з порушеннями репродуктивної функції. Методи. Визначення однонуклеотидних генетичних поліморфізмів SNPs проведено методом ПЛР в реальному часі. Рівень фрагментації ДНК в спермі виявлено за допомогою методу хроматинової дисперсії. Анеуплоїдію в спермі досліджено методом флуоресцентної гібридизації in situ (FISH). Результати. Поліморфні алелі генів фолатного обміну асоційовані з анеуплоїдією в спермі у чоловіків із порушеною репродуктивною функцією. Доведено зв'язок між кількістю поліморфних алелів A1298C гену MTHFR у генотипі та рівнем анеуплоїдії хромосоми 16 в спермі. Висновки. Анеуплоїдна сперма здатна до запліднення ооцитів, але подальше формування бластоцист та імплантація ембріонів можуть бути блоковані на різних стадіях розвитку. Розуміння генетичних причин анеуплоїдії сперми дозволить зменшити репродуктивні втрати у практиці ЕКЗ.
Ключові слова: фрагментація ДНК, анеуплоїдія сперми, MTHFR, MTRR, репродуктивна функція.
Посилання
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