QON RISHTALARI VA GENETIK FOJIA:YAQIN QARINDOSHLAR NIKOHI-MILLAT GENEFONDIGA TAHDID SIFATIDA
Keywords:
Xardi-Vaynberg, gomozigotalilik, Inbiriding deprissiya, konsangvinitet, populyatsiya . Konsangvinitet, inbriding Xardi-Vaynberg muvozanati, irsiy karlik, GJB2 mutatsiyasi, genetik panel skriningi, millat genofondi, Paxtachi tumani TTB.Abstract
Ushbu tadqiqotda inson populyatsiyasida inbriding (yaqin qarindoshlararo nikoh) koeffitsiyentining ortishi va uning millat genofondiga ko‘rsatadigan salbiy oqibatlari fundamental genetika qonuniyatlari asosida tahlil qilinadi. Ishda konsangvinitet (qondoshlik) natijasida Xardi-Vaynberg muvozanatining buzilishi, ya’ni retsessiv allellarning gomozigotalashishi va buning natijasida yuzaga keladigan "Inbriding depressiyasi " Fenomeni ilmiy asoslab berilgan. Shuningdek, maqolada zamonaviy genetik statistika ma’lumotlari keltirilib, irsiy patologiyalarning oldini olishga qaratilgan kompleks profilaktik chora-tadbirlar va genetik skrining tizimini takomillashtirish masalalari yoritilgan.
References
1. Thompson M.W., McInnes R.R., Willard H.F. Thompson & Thompson Genetics in Medicine. – Philadelphia: Elsevier, 2016.
2. Nussbaum R., McInnes R., Willard H. Thompson & Thompson Genetics in Medicine. 8th edition. – Philadelphia: Saunders, 2016.
3. Strachan T., Read A. Human Molecular Genetics. – New York: Garland Science, 2018.
4. Hartl D.L., Clark A.G. Principles of Population Genetics. – Sunderland: Sinauer Associates, 2007.
5. Hardy G.H. Mendelian Proportions in a Mixed Population. – Science Journal, 1908.
6. World Health Organization. Genetic Disorders and Congenital Anomalies: Global Report. – Geneva: WHO, 2020.
7. Bittles A.H. Consanguinity and Its Relevance to Clinical Genetics. – Clinical Genetics Journal, 2001.
8. Modell B., Darr A. Science and Society: Genetic Counselling and Customary Consanguineous Marriage. – Nature Reviews Genetics, 2002.
9. O‘zbekiston Respublikasi Sog‘liqni saqlash vazirligi. Neonatal skrining dasturi bo‘yicha statistik ma’lumotlar. – Toshkent, 2022.
10. Nussbaum R., Thompson M. Medical Genetics. – Philadelphia: Elsevier, 2017.
