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

Experimental conditions for detection of germ line deletions of the von Hip pel-Lindau (VHL) gene by means of long polymerase chain reaction have been established. Primers were designed to analyse the VHL gene in three overlap ping 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 muta tions previously detected by Southern blotting and in 5 of 11 unrelated Pol ish VHL patients in whom constitutional VHL gene mutations were not found b y sequencing.