ICHKI KO‘Z KASALLIKLARI VA ULARNI NASLDAN NASLGA O‘TISHNI OLDINI OLISH
Ro'zimova Maxliyo Umirbek qizi
Urganch Ranch texnologiya universiteti
Keywords: irsiy ko‘z kasalliklari, genetik mutatsiyalar, molekulyar diagnostika, gen terapiyasi, irsiy maslahat, prenatal diagnostika, profilaktika.
Abstract
Ushbu maqola irsiy ichki ko'z kasalliklarining etiologiyasi, patogenezi, irsiy o‘tish mexanizmlari va ularning oldini olishning zamonaviy strategiyalarini kompleks o‘rganishga bag‘ishlangan. Tadqiqotning asosiy magsadi – irsiy retinopatiyalar, tug‘ma glaukoma, irsiy katarakta, shuningdek, monogen va murakkab poligen irsiy kasalliklar natijasida kelib chiquvchi ko‘rlikning asosiy sabablari bo‘lgan patologiyalarning epidemiologik xususiyatlarini, genetik xilma-xilligini va ularni erta diagnostika qilishning ilg‘or usullarini o‘rganishdir.
References
1. Broadgate S., Yu J., Downes S.M., Halford S. Unraveling the Genetic Landscape of Inherited Retinal Diseases in the Pakistani Population // Genes. – 2022. – Vol. 13(3). – P. 512.
2. Chen X., Zhao K., Sheng X., Li Y., Gao X., Zhang X., et al. Comprehensive molecular diagnosis of 67 Chinese families with inherited eye diseases // Experimental Eye Research. – 2021. – Vol. 207. – P. 108556.
3. Smith J., Jones M., Brown A. Global Perspectives on Inherited Eye Diseases // Lancet Ophthalmology. – 2021. – Vol. 9(4). – P. 345-356.
4. Taylor R.L., Parry N.R.A., Barton S.J., Campbell C., Delaney C.M., Ellingford J.M., et al. Genetic landscape of inherited retinal disease in a large UK cohort // American Journal of Ophthalmology. – 2022. – Vol. 243. – P. 123-136.
5. Wang X., Wang H., Sun V., Tuan H.F., Keser V., Wang K., et al. Comprehensive molecular diagnosis of 67 Chinese families with inherited eye diseases // Nature Genetics. – 2023. – Vol. 55(2). – P. 210-219.
6. Karimov N.N., Abdullaeva M.S. O‘zbekiston aholisida irsiy retinopatiyalarning genetik xususiyatlari // O‘zbekiston Tibbiet Jurnali. – 2022. – № 4. – B. 45-51.
7. Raximova S.T., Aliev Sh.K. Tug‘ma kataraktaning irsiy shakllari: klinik-genetik tahili // Pediatriya. – 2021. – № 3. – B. 78-84.
8. Yusupov R.A., Akbarov A.D. Irsiy glaukoma: molekulyar-genetik diagnostika va profilaktika // Sog‘liqni saqlash. – 2020. – № 6. – B. 34-39.