• T.Y. Komarova
  • V.A. Korneva
  • T.Y. Kuznetsova
  • A.S. Golovina
  • V.B. Vasilyev
  • M.Y. Mandelshtam
Abstract Background: Familial hypercholesterolemia (FH) is a human monogenic disease induced by a variety of mutations with striking genetic diversity. Despite this variability recurrent mutations occur in each population studied, which allows both elucidating prevalent mutations and developing DNA diagnostic tools for the disease. Recent research of FH in St. Petersburg, Moscow and Novosibirsk (major cities in Russia) demonstrates that each megapolis has its own FH mutation spectrum sharing only small part of mutations with other populations in Russia and Europe. In order to optimize molecular-genetic diagnostic protocols for FH in Russia we studied mutation spectrum in other regions including Petrozavodsk, a smaller town in relatively close proximity to St. Petersburg. Methods: The principal method was automated detection of single-strand conformation polymorphism followed by direct PCR amplified DNA sequencing. Results: Twelve different mutations of the low density lipoprotein (LDL) receptor gene were det
Original languageEnglish
Pages (from-to)1-5
JournalBMC Medical Genetics
Volume14
Issue number128
DOIs
StatePublished - 2013

    Research areas

  • familial hypercholesterolemia, low density lipoprotein receptor, mutation, Petrozavodsk, St.Petersburg

ID: 7407733