RS10965250 CDKN2A GEN POLIMORFIZMINING O'ZBEK POPULYATSIYASIDA 2- TOIFA QANDLI DIABET RIVOJLANISH XAVFIGA TA'SIRI
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2TQD, Rs10965250, CDKN2A geni, o'zbek populyatsiyasi##article.abstract##
Dolzarblik. Turli geografik populyatsiyalarning genetik markerlarni taqsimlanishida farqlarga ega bo'lganligi sababli, CDKN2A genining rs10965250 polimorfizmini o'zbek populyatsiyasida 2TQD turini rivojlanishga ta'sirini o'rganish qiziqarli bo'ladi.
Maqsad. CDKN2A genining rs10965250 polimorfizmini o'zbek populyatsiyasida 2TQD turini rivojlanishga ta'sirini o'rganish.
Tadqiqotning materiallar va usullari. Ushbu tadqiqotda 185 kishi ishtirok etdi, ulardan 105 nafariga 2TQD tashxisi qo'yilgan bemorlar, ular Akademik Y.X.To'raqulov nomidagi endokrinologiya markazida statsionar davolanmoqda, 80 nafari O’zbek populatsiyaning sog'lom nazoratchisi. PCR uchun QuantStudio 5 Applied Biosystems amplifikatori ishlatilgan. Reaktsiya ishlab chiqaruvchining standart protokoliga muvofiq TaqMan® Genotyping Assays to'plami (Thermo Fisher Scientific, AQSh) yordamida 10 µl hajmda amalga oshirildi.
Natijalar. Tadqiqotda o'zbek populyatsitasidan 185 nafar shaxsi ishtirok etdi, ulardan 105 nafari 2TQD bilan kasallangan va 80 nafari 2TQD bo'lmagan nazorat 28 yoshdan 84 yoshgacha bo'lgan (M=57,09±9,29), ulardan 90 nafari ayollar (48,6%) va 95 nafari erkaklar (51,4%). Nazorat guruhidagi genotip chastotalarining taqsimlanishi Hardy-Vaynberg taqsimotiga to'g'ri keldi (p>0,05), bemorlar guruhida esa mos kelmadi (p<0,05). Bemorlar guruhida GG-genotip - 46% (n \ u003d 48), GA-genotip-53% (n \ u003d 56) va AA genotipi 1% (n \ u003d 1) da aniqlanadi. Sog'lom guruhda GG-genotip – 50% da aniqlangan (n=40), GA-genotip - 41% da aniqlangan (n=33) va AA genotip 9% da aniqlangan (n=1).
Xulosa. Shunday qilib, rs10965250 ning polimorfik varianti ba'zi populyatsiyalarda 2 TQD rivojlanishiga ta'sir ko'rsatdi. Bundan tashqari, ushbu polimorfik variant CDKN2A genidagi boshqa funktsional mutatsiyalarning belgisi yoki ular bilan muvozanatsiz bog'lanishga sabab bo'lishi mumkin. Bundan tashqari, ushbu variantning ta'siri boshqa genlar yoki atrofdagi omillar bilan o'zgarishi mumkin [9].
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