β-GLOBIN GENIDAGI MUTATSIYALARNING PATOGENEZI VA KLINIK OQIBATLARI
Keywords:
HBB geni, β-globin, HbS, β-talassemiya, patogenez, gemoliz, gipoksiya, mutatsiya, polimerizatsiya, gen terapiyasi.Abstract
Inson salomatligiga irsiy omillarning ta'siri begiyos bo'lib, gemoglobinopatiyalar dunyo aholisi orasida eng keng tarqalgan monogen kasalliklar guruhiga kiradi. β-globin geni (HBB) mutatsiyalari gemoglobin molekulasining tuzilishi va funksiyasini buzib, turli gemoglobinopatiyalarning rivojlanishiga olib keladi. Ushbu maqolada HBB genidagi asosiy mutatsiyalarning molekulyar-biokimyoviy mexanizmlari, hujayraviy shikastlanish jarayonlari va tizimli klinik oqibatlari keng tahlil qilingan. Jahon sog'liqni saqlash tashkiloti ma'lumotlariga ko'ra, dunyo aholisining 5% dan ortig'i gemoglobin genlarining patologik variantini tashiydi va har yili 300 000 dan ortiq bola og'ir gemoglobinopatiyalar bilan tug'iladi. Adabiyotlar tahlili asosida erta skrining, genetik maslahat va muntazam klinik nazorat kasallik asoratlarini kamaytirishda muhim ahamiyat kasb etishi ko'rsatilgan. Shuningdek, zamonaviy gen terapiyasi va gen tahriri texnologiyalarining istiqbollari yoritilgan.
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