Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor gene

Hum Genet. 1999 Oct;105(4):333-6. doi: 10.1007/s004399900137.


Experimental conditions for detection of germline deletions of the von Hippel-Lindau (VHL) gene by means of long polymerase chain reaction have been established. Primers were designed to analyse the VHL gene in three overlapping fragments: 12.5 kb in length containing promoter and exons 1 and 2; 8.7kb in length containing exons 2 and 3; and 16kb in length containing exons 2 and 3 and the 3' untranslated region. Using the described procedure, it was possible to detect large deletions in four of five cases with such mutations previously detected by Southern blotting and in 5 of 11 unrelated Polish VHL patients in whom constitutional VHL gene mutations were not found by sequencing.

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis / methods
  • DNA Primers / genetics
  • Evaluation Studies as Topic
  • Genes, Tumor Suppressor*
  • Germ-Line Mutation*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction / methods*
  • Sequence Deletion*
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics*


  • DNA Primers