KISTIK FIBROZNING EPIDEMIOLOGIYASI VA GENETIK ASPEKTLARI (Adabiyotlar sharhi)
Abstrakt
Muvofiqlik. Mukovistsidoz yoki Landshtayner-Fankoni kasalligi deb ham ataladigan mukovistsidoz (KF) irsiy autosomal retsessiv kasallik bo'lib, ekzokrin bezlarning tizimli shikastlanishi bilan tavsiflanadi. Bu nafas olish, ovqat hazm qilish va reproduktiv tizimlarning surunkali yallig'lanishi va disfunktsiyasiga olib keladigan shilliqning patologik sekretsiyasi shaklida o'zini namoyon qiladi. Kasallikning barcha shakllari orasida ichak shakli, ayniqsa, yangi tug'ilgan chaqaloqlarda eng ko'p uchraydi, bu uning chastotasini, immunohistologik xususiyatlarini va genetik moyilligini o'rganishni muhim qiladi. Tadqiqotning maqsadi mukovistsidozning epidemiologiyasi va genetik jihatlarini o'rganishdir. Tadqiqot natijalari. Turli skrining dasturlarining tahlili shuni ko'rsatadiki, eng samarali usullar biokimyoviy tahlil (IRT) bilan molekulyar testni (CFTR variant paneli) birlashtiradigan usullardir. Biroq, NBS samaradorligi optimal IRT chegaralarini belgilashga, etnik xususiyatlarni hisobga olgan holda genetik test panellarini kengaytirishga va noto'g'ri salbiy holatlar ulushini kamaytirish uchun takroriy testlarni amalga oshirishga bog'liq. Xulosa. Ushbu sharh CF dasturlarini amalga oshirish, test sezgirligi va o'ziga xosligi va aniqlangan CRMS/CFSPID holatlarining klinik ahamiyati bo'yicha joriy tadqiqotlarni o'rganadi.
Nashr sanasi
Mualliflar haqida
Adabiyotlar ro'yxati
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