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 region surrounding the VHL gene and identified and characterized overlapping deletions in three unrelated patients affected with VHL. The smallest nested deletion (100 kb) was located within a 510-kb NruI fragment detected by 19-63'. The rearrangements detected will be useful in isolating and evaluating candidate cDNAs for the VHL gene. The detailed physical map will be useful in studying the organization and structure of genes in the VHL region.
Yao
M
M
Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center, MD 21702.
Latif
F
F
Orcutt
M L
ML
Kuzmin
I
I
Stackhouse
T
T
Zhou
F W
FW
Tory
K
K
Duh
F M
FM
Richards
F
F
Maher
E
E
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D018244:Chromosomes, Artificial, Yeast; D004252:DNA Mutational Analysis; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D015321:Gene Rearrangement; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D014407:Tumor Cells, Cultured; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics*
D005819:Genetic Markers