Institut for Biomedicin

Lars Bolund

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

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

  • N. S. Rüdiger, Aarhus Universitet
  • ,
  • E. M. Heinsvig, Molecular Genetic Laboratory, Aarhus Universitet
  • ,
  • F. A. Hansen, Aarhus Amtssygehus, Aarhus Universitet
  • ,
  • O. FÆrgeman
  • L. Bolund
  • N. Gregersen

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 Alusequences.

TidsskriftClinical Genetics
Sider (fra-til)451-462
Antal sider12
StatusUdgivet - jun. 1991

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