DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia

Clin Genet. 1991 Jun;39(6):451-62. doi: 10.1111/j.1399-0004.1991.tb03057.x.


DNA samples from 25 unrelated Danish patients with familial hypercholesterolemia (FH) were screened by Southern blot hybridization to detect gross alterations in the low density lipoprotein (LDL) receptor gene. Three FH-patients were found to have a deletion. Two of these delete part of the cysteine rich domain, which comprises the ligand binding region of the LDL-receptor. The third deletion encompasses coding regions for the cytoplasmic part of the receptor. As two of these deletions could be equivalent to previously described LDL-receptor gene alterations, these data seem to support a notion of recombination hot spots which involve Alu-sequences.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Blotting, Southern
  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA Probes
  • Denmark / epidemiology
  • Gene Rearrangement
  • Genetic Testing
  • Humans
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / epidemiology
  • Hyperlipoproteinemia Type II / genetics*
  • Middle Aged
  • Pedigree
  • Receptors, LDL / genetics*
  • Recombination, Genetic


  • DNA Probes
  • Receptors, LDL