ODAM GENOMIDAGI MUTATSIYALAR VA IRSIY KASALLIKLAR
Abstract
Dolzarbligi: Odam genomidagi mutatsiyalarni o‘rganish tibbiy biologiya va klinik tibbiyotda juda dolzarb hisoblanadi. Mutatsiyalar irsiy kasalliklarning asosiy sabablaridan biri bo‘lib, ularni aniqlash orqali kasalliklarni erta tashxislash, oldini olish va samarali davolash imkoniyatlari paydo bo‘ladi. Shuningdek, gen terapiyasi va molekulyar diagnostika sohalaridagi so‘nggi yutuqlar odam genomidagi mutatsiyalarning inson sog‘lig‘iga ta’sirini chuqur tushunishga yordam beradi. Bugungi kunda nasldan naslga o‘tadigan kasalliklar, masalan, Sickle Cell anemia yoki Cystic Fibrosis, dunyo miqyosida ko‘plab insonlar sog‘lig‘iga salbiy ta’sir ko‘rsatmoqda. Shu sababli, odam genomidagi mutatsiyalarni o‘rganish kasalliklarni oldini olish, davolash strategiyalarini ishlab chiqish va sog‘lom avlod yetishtirish uchun katta ahamiyatga ega.
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