VON HIPPEL-LINDAU DISEASE - IDENTIFICATION OF DELETION MUTATIONS BY PULSED-FIELD GEL-ELECTROPHORESIS

Von Hippel-Lindau disease (VHL) is an inherited multisystem neoplastic disorder. We prepared a 2.5-megabase (Mb) restriction map of the regi on surrounding the VHL gene and identified and characterized overlappi ng deletions in three unrelated patients affected with VHL. The smalle st nested deletion (100 kb) was located within a 510-kb NruI fragment detected by 19-63'. The rearrangements detected will be useful in isol ating and evaluating candidate cDNAs for the VHL gene. The detailed ph ysical map will be useful in studying the organization and structure o f genes in the VHL region.