MARFAN SINDROMINING MOLEKULYAR-GENETIK ASOSLARI VA KLINIK KO‘RINISHLARINING TIZIMLI TAHLILI
Keywords:
Marfan sindromi, FBN1 geni, fibrillin-1, TGF-β signal yo‘li, genetik displaziya, aorta anevrizmasi.Abstract
Marfan sindromi — bu biriktiruvchi to‘qimaning irsiy displaziyasi bo‘lib, u FBN1 genidagi mutatsiyalar bilan bog‘liq. Mazkur sindromda fibrillin-1 oqsilining strukturaviy va funksional yetishmovchiligi natijasida organizmning ko‘plab tizimlarida (skelet, yurak-qon tomir, ko‘z va o‘pka tizimlari) patologik o‘zgarishlar kuzatiladi. Ushbu maqolada Marfan sindromining molekulyar-genetik mexanizmlari, klinik fenotiplari va zamonaviy diagnostik-davolash yondashuvlari chuqur tahlil qilinadi.
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