Досліджували асоціації SNP в гені лептину (LEP g.2845A>T, LEP g.3996T>C, LEP g.3469T>C) і гені рецептора лептину (LEPR c.232A>T, LEPR c.2856C>T, LEPR c.915C>T) з ознаками якості м’яса свиней великої білої породи української селекції (УВБ). Був проведений обчислювальний аналіз (SIFT, PolyPhen-2 та I-Mutant біоінформаційні сервіси) впливу мутацій, які викликають SNP, як для вибраних SNP, так і для тих місенс-SNP, для яких вони можуть бути потенційними LD (Linkage Disequilibrium) маркерами, на структуру та функції лептину і рецептора лептину. LEP SNP c.3469T>C (екзон 3, rs45431504) асоційований із вмістом білка в м’ясі та вмістом вологи в спинному жирі. LEP SNP g.2845A>T (rs344615147), який асоціюється з вологоутримуючою здатністю м’яса та вмістом вологи в спинному жирі, розташований у другому інтроні та, як і SNP c.3469T>C, імовірно, можна розглядати як LD маркер місенс-поліморфізму SNP LEP rs701423985. LEPR SNP c.232A>T (екзон 4, rs45435517) – це місенс-мутація, яка викликає амінокислотну заміну S52I. Оцінки, отримані за допомогою SIFT і PolyPhen-2, вказують на значний вплив rs45435517 на функціональні характеристики рецептора лептину. Дійсно, у нашій роботі встановлена асоціація SNP c.232A>T з товщиною шпику. У той же час SNP c.2856C>T (екзон 20, rs694660564, синонімічна заміна), який у нашій роботі продемонстрував асоціацію з втратою вологи у м’ясі у свиней УВБ, може бути потенційним LD маркером і знаходитися у нерівновазі за зчепленням з місенс SNP LEPR rs1113972516, rs792804682 і rs1109261799. SNP, для яких у нашій роботі були встановлені асоціації з показниками якості м’яса, очевидно, можна розглядати як потенційні маркери для селекції свиней УВБ і, можливо, інших порід, направленої на отримання генотипів з покращеними характеристиками якості м’яса.
Ключові слова: свині, ген лептину, ген рецептора лептину, SNP, ознаки якості м’яса, асоціація, обчислювальний аналіз ефектів SNP
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