title: Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.
abstract: BACKGROUND
  Familial hypercholesterolemia (FH) is caused by mutations in the low density lipoprotein (LDL) receptor gene. In this study we have compared multiplex ligation-dependent probe amplification (MLPA) and long-range PCR to detect large deletions/duplications in the LDL receptor gene.
  
  
  METHODS
  DNA from 431 unrelated FH patients without mutations in the LDL receptor gene detectable by DNA sequencing and who had total serum cholesterol levels above 10.0 mmol/l, was subjected to analyses by MLPA and by five long-range PCRs.
  
  
  RESULTS
  Eleven deletions and two duplications were detected by MLPA. Six of the deletions and one of the duplications were also detected by long-range PCR. A total of 44 of the 431 (10.2%) FH patients possessed a deletion or a duplication.
  
  
  CONCLUSIONS
  MLPA has a higher sensitivity than five long-range PCRs to detect large deletions/duplications in the LDL receptor gene. Even though the direct cost of MLPA is twice that of five long-range PCRs, it has replaced long-range PCR for routine diagnostics in our laboratory because of the higher sensitivity and the 30-50% reduction in hands-on time.
authors.affiliation: Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, N-0027 Oslo, Norway.
authors.forename: Øystein  L
authors.initials: Ø
authors.lastname: Holla
authors.forename: Christél
authors.initials: C
authors.lastname: Teie
authors.forename: Knut Erik
authors.initials: KE
authors.lastname: Berge
authors.forename: Trond P
authors.initials: TP
authors.lastname: Leren
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics*; D012680:Sensitivity and Specificity
chemical_list: D011973:Receptors, LDL