A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg

Hum Mutat. 1993;2(4):256-60. doi: 10.1002/humu.1380020404.

Abstract

Fifty St. Petersburg patients with type IIa hyperlipoproteinemia were screened for the presence of structural rearrangements in the low-density lipoprotein receptor (LDLR) gene. One novel deletion of the length about 5 kilobases (kb) was found. This deletion seems to remove completely exons 4, 5, and 6 from the LDLR gene, coding for the largest part of the receptor ligand-binding domain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Southern
  • Child
  • Female
  • Humans
  • Hyperlipoproteinemia Type II / epidemiology
  • Hyperlipoproteinemia Type II / genetics*
  • Male
  • Middle Aged
  • Receptors, LDL / genetics*
  • Restriction Mapping
  • Russia / epidemiology
  • Sequence Deletion*

Substances

  • Receptors, LDL