Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B

Henrik Nissen*, Annebirthe B. Hansen, Per Guldberg, Torben S. Hansen, Niels E. Petersen, Mogens Hørder

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

We have recently developed a simple mutation screening assay based on the denaturing gradient gel electrophoresis (DGGE) technique for detection of mutations in the coding and regulatory regions of the low density lipoprotein receptor (LDLR) gene and the codon 3500 region of the apolipoprotein (apo) B-100 gene leading to familial hypercholesterolemia (FH) and familial defective apo B-100 (FDB), respectively. To evaluate the assay, 14 Danish families suspected of FH were studied. In ten families, the DGGE assay detected seven different point mutations, including mutations undescribed prior to establishing the assay. In addition, in one of these ten families and in one of the remaining four families, Southern blotting detected the FH-DK3 exon 5 deletion. Based on segregation analysis and clinical data, the FH diagnosis was dubious in the remaining three families without DGGE or Southern blotting detectable mutations. In conclusion, a simple DGGE based mutation screening assay may detect underlying mutations in most FH/FDB families, thus allowing its routine use in genetic counselling of FH-families.

Original languageEnglish
JournalClinical Genetics
Volume53
Issue number6
Pages (from-to)433-439
ISSN0009-9163
Publication statusPublished - Jun 1998

Keywords

  • Diagnostics
  • Familial defective apolipoprotein B-100
  • Familial hypercholesterolemia
  • Genetics

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