UILSON-KONOVALOV KASALLIGINING KLINIK-MOLEKULAR, HAMDA GENETIK DIAGNOSTIKASI
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Uilson-Konovalov kasalligi, Uilson kasalligi, ATP7B geni, mis almashinuvi, genetik diagnostika, molekulyar diagnostika, keyingi avlod sekvensiyasi, seruloplazmin, Kayser-Fleysher halqasi, jigar disfunktsiyasi, nevrologik simptomlar.Abstrak
Uilson-Konovalov kasalligi, shuningdek, Uilson kasalligi sifatida ham tanilgan, ATP7B genidagi mutatsiyalar natijasida kelib chiqqan, jigar, miya va boshqa organlarda mis to'planishiga olib keladigan noyob autosomal retsessiv kasallik. Ushbu maqola Vilson-Konovalov kasalligining klinik va molekulyar genetik diagnostikasini o'rganib, erta aniqlash va genetik testning muhimligini ta'kidlaydi. Klinik tashxis jigar disfunktsiyasi, nevrologik buzilishlar va Kayser-Fleischer halqalari kabi xarakterli alomatlarga, shuningdek, sarum seruloplazmin va siydik bilan mis ajralishi kabi biokimyoviy belgilarga asoslanadi. Molekulyar genetik test, xususan, ATP7B genining ketma-ketligi tashxisni tasdiqlashda, tashuvchilarni aniqlashda va genetik maslahatni osonlashtirishda hal qiluvchi rol o'ynaydi. Keyingi avlod sekvensiyasi (NGS) va boshqa molekulyar texnikalardagi yutuqlar diagnostika aniqligini oshirib, erta aralashuv va shaxsiylashtirilgan davolash strategiyalarini yaratish imkonini berdi. Vilson-Konovalov kasalligini samarali tashxislash va davolash uchun klinik, biokimyoviy va genetik tahlillarni birlashtirgan kompleks yondashuv zarur.
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