Jild 5 Nomeri 2 (2026): Mart-Aprel
33-49
2026-04-30
Ochiq kirish

Yangi tug‘ilgan chaqaloqlarda tug‘ma patologiyada MTR geni A2756G polimorfizmining tarqalishi va klinik ahamiyati

Gulnaz A.Kamalova
Nargiza K.Xodjamova
Xamid Y.Karimov
DOI: https://doi.org/10.56121/MSU-2026-2-00009

Qabul qilingan: 2026-02-11 14:36:46

Nashr etilgan: 2026-04-30

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Annotatsiya

Maqsad. Tug‘ma rivojlanish nuqsonlari (TRN) mavjud yangi tug‘ilgan chaqaloqlarda MTR geni (Asp919Gly, rs1805087) polimorf variantlarining tarqalish chastotasini o‘rganish va ularning o‘zaro bog‘liqligini baholash.


Materiallar va usullar. Tadqiqotga TRN bilan tug‘ilgan 113 nafar yangi tug‘ilgan chaqaloq (asosiy guruh) jalb qilindi. Ular uchta klinik kichik guruhga ajratildi: folatga bog‘liq TRN (n=75), folatga bog‘liq bo‘lmagan TRN (n=21) hamda xromosoma anomaliyalari bilan kechuvchi TRN (n=17). Nazorat guruhini 110 nafar sog‘lom yangi tug‘ilgan chaqaloq tashkil etdi. Genotiplash RT-PCR usuli yordamida amalga oshirildi.


Natijalar. Asosiy guruhda minor Gly allelining chastotasi (35,84%) nazorat guruhiga (21,36%) nisbatan ishonchli darajada yuqori ekani aniqlandi. Eng yaqqol farqlar folatga bog‘liq TRN kichik guruhida kuzatildi, bunda Gly alleli chastotasi 40,67% ni, Gly/Gly gomozigot genotipi esa 21,33% ni tashkil etdi, nazorat guruhida esa ushbu ko‘rsatkich 7,27% bo‘ldi (χ²=7,8; p=0,01; OR=3,46; 95% IS: 1,45–8,26). Hardy–Weinberg muvozanati tahlili asosiy guruhda ishonchli og‘ishni ko‘rsatdi (χ²=5,03; p=0,028) va geterozigotalar tanqisligi kuzatildi (D=−0,21). Folatga bog‘liq bo‘lmagan TRN hamda xromosoma anomaliyalari bilan kechuvchi TRN kichik guruhlarida MTR A2756G polimorfizmi bilan statistik ahamiyatli bog‘liqlik aniqlanmadi. Gly/Gly genotipi folatga bog‘liq TRN markeri sifatida yuqori spetsifiklikni (SP=0,93) va ROC-egri chizig‘i ostidagi maydonni (AUC=0,57) namoyon etdi.


Xulosa. Olingan natijalar MTR Asp919Gly polimorfizmini yangi tug‘ilgan chaqaloqlarda folatga bog‘liq tug‘ma rivojlanish nuqsonlari xavfining potensial molekulyar-genetik markeri sifatida baholash imkonini beradi.

Kalit so‘zlar

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Mualliflar haqida

Gulnaz A.Kamalova
gulnazkamalova994@gmail.com
Nargiza K.Xodjamova
hnkdoc@mail.ru
Toshkent davlat tibbiyot universiteti

PhD, dotsent, Toshkent davlat tibbiyot universiteti Neonatologiya kafedrasi

Xamid Y.Karimov
hnkdoc@mail.ru

Litsenziya

Mualliflik huquqi (c) 2026 O`zbekiston tibbiyot ilmi

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Yangi tug‘ilgan chaqaloqlarda tug‘ma patologiyada MTR geni A2756G polimorfizmining tarqalishi va klinik ahamiyati. MSU [Internet]. 2026 Apr. 30 [cited 2026 Jul. 9];5(2):33-49. Available from: https://fdoctors.uz/index.php/journal/article/view/271
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