The major goal of the research effort was to precisely locate the von Hippel-Lindau disease gene. Previous studies from our laboratory indicated that VHL is located in a 6-8 cM interval between RAF1 and D3Sl8. D3S601, located between RAF1 and D3SI8, has not shown any recombination with VHL. A long range restriction map around VHL has been prepared by pulsed field gel electrophoresis. The physical map is centered around D3S601. One family has been identified in which affected members appear to have a 200 kb deletion in the VHL gene area. We have isolated YAC clones for all markers close to VHL and are in the process of cloning the region by YAC-based chromosome walking.
