Изучение спектра мутаций в гене рецептора липопротеинов низкой плотности у больных семейной гиперхолестеринемией в Санкт-Петербурге
Graadt van Roggen F., van der Westhuyzen D.R., Marais A.D. et al. Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas. Hum. Genet.1991) V.88(2), p. 204−208. Goldstein J.L., Schrott H.G., Hazzard W.R. Hyperlipidemia in coronary heart disease. Genetic analysis of lipid levels in 176 families and delineation… Читать ещё >
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- 6. ВЫВОДЫ
1. Методами гетеродуплексного анализа и анализа конформационного полиморфизма одноцепочечных фрагментов ДНК с последующим секвенированием по методу Сэнджера впервые обнаружены пять ранее неизвестных мутаций в гене рецептора ЛНП: 347delGCC, Cl88Y, C146R, А130Р и молчащая мутация G128G. Разработаны методы быстрой детекции всех обнаруженных мутаций путем рестрикционного анализа.
2. Показано, что миссенс-мутация C139G является повторно встречающейся в популяции Санкт-Петербурга, то есть обнаружена в нескольких семьях.
3. Методом анализа конформационного полиморфизма одноцепочечных фрагментов ДНК с последующим секвенированием показано наличие в Санкт-Петербургской популяции полиморфизмов гена рецептора ЛНП 1545 С/Т и 1413 G/A, аналогичных встречающимся в зарубежных популяциях.
4. Клонированием в плазмидном векторе PCR®2.1. фрагмента 4-го экзона гена рецептора ЛНП с последующей амплификацией методом ПЦР и рестрикционным анализом показано, что мутация А130Р сцеплена с молчащей мутацией G128G.
5. В рамках изученной выборки показано, что для пациентов с СГ Санкт-Петербурга не свойственно наличие мутаций гена рецептора ЛНП в промоторной области, экзонах 16, 17 и 18.
6. Все мутации обнаружены в группе из 42 пациентов с семейной гиперхолестеринемией. В группе из 60 пациентов с изолированными случаями гиперлипидемии не выявлено ни одной мутации, что указывает на невысокую вероятность обнаружения мутаций у этой категории пациентов.
Изучение спектра мутаций в гене рецептора липопротеинов низкой плотности у больных семейной гиперхолестеринемией в Санкт-Петербурге (реферат, курсовая, диплом, контрольная)
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