Biopolym. Cell. 1991; 7(3):38-45.
http://dx.doi.org/10.7124/bc.0002CD
Ідентифікація нової делеції в гені рецептора ліпопротеїнів низької щільності людини у пацієнтів з сімейною гіперхолестеринемією
1Мандельштам М. Ю., 1Липовецький Б. М., 1Шварцман О. Л., 1Гайцхокі В. С.
  1. Інститут експериментальної медицини АМН СРСР
    Ленінград, СРСР

Abstract

Сімейна гіперхолестерінемія (СГ) – аутосомно-домінантне захворювання людини, причиною якої на молекулярному рівні є різні мутації гену рецептору ліпопротеїнів низької щільності (рЛНЩ). В роботі ми описуємо нову делецію довжиною 5 тис. нуклеотидних пар в локусі рЛН Щ у хворого з фенотипом СГ. Делеція елімінує екзони 4, 5 і, напевне, 6 гену рЛНЩ. Виявлення природи спадкового дефекту дозволяє провести ранню діагностику СГ у дітей хворої. Обговорюється значення міжіндивідуальних розбіжностей у розвитку СГ.
Повний текст: (PDF, російською)

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