tirozin fenilalanin parchalanishi buzuladi, fenilketonuriya, alkaptonuriya, bo'g'im va tog'aylar shikastlanadi, fenilketonuriya, alkaptonuriya, melanin pigmenti buzulib, teri soch ko'z qorachig'iga pigment yetishmaydi, albinizm, FKU, +90, ha, yoq, sichqon hidi bo'lishi, FKU, albinizm, gomosistinuriya, s saqlovchi, n saqlovchi, miyada glitsin to'planishi oqibatida k/ch kas, glitsin ensefalopatiyasi, xartnup, ichak va buyrakda neytral aminok. buzulishi qaysi kassallik, xartnup, argininemiya, -90, ha, yoq, kasallik geni 15 xromosomada joylashgan qaysi kasallikda, Gm2, Gm1, mushaklar skeleti va yurak mushagining og'ir shikastlanishi, pompe, gierke, jigar kattalashishi va og'ir ochlikgipoglikemiyasi, gierke, pompe, galaktozemiyaga ta'rif, ha, yoq, Gangliodozlar tasnifi, Gm1-3 /Gm2-5, Gm1-5/Gm2-3, +80, ha, yoq, laktaza yetishmovchiligi haqida malumot, ha, yoq, Mutant gen 6 xromosoma ming uzun yelkasining uzun yelkasida joylashgan qaysi kasallikda, Argininemiya, Alkoptonuriya, -80, ha, yoq, +50, ha, yoq, gʻilaylik,epikand, 👃 puchuqligi oysimon yuz, antimongoloid koʻz kesimi, Mushuk chinqirigʻi, Volf Xirshxorn sindromi, har 10000-16000tadan bittadA uchaydi, patau, klaynfelter, UZI da homilayoqa bo'shlig'i kengayishi, burun suyagi gipoplaziyasi kuzatiladi, sher-terner, patau, -50, ha, yoq, quyonlablik qaysi kas sindromi, patau, xxx trisomiya, -60, ha, yoq, +60, ha, yoq, ginekomastiya qaysib irsiy kas uchraydi, klaynfelter, sher-terner, aqliy rivojlanishi normada matemetika fanini o'zlahtirishi qiyin qaysi kasallik, sher-terner, klaynfelter
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Mavzu 3
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