title: Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p.
abstract: Von Hippel-Lindau disease is a heritable tumour syndrome caused by the loss of the function of a tumour suppressor gene on the short arm of human chromosome 3. The interval RAF1-D3S18 (3p25-3p26) has been identified by genetic linkage studies to harbour the von Hippel-Lindau gene. We have constructed a long range restriction map of this region and have succeeded in demonstrating the physical linkage of loci D3S726 (DNA probe LIB31-38), D3S18 (c-LIB-1, L162E5), D3S601 (LIB19-63) and D3S587 (LIB12-48). Since multipoint analysis has located D3S601 proximal to D3S726, the physical map should be oriented with D3S726 towards the telomere. The order and distances of probes within the von Hippel-Lindau gene region is as follows: telomere--LIB31-38--(< 280 kb)--c-LIB-1--(overlapping)--L162E5--(900-1600 kb)--(LIB19-63, LIB12-48)--centromere. In tissues that included blood, semen and Epstein-Barr-virus-transformed lymphocytes, we detected a putative CpG island flanking D3S18.
authors.affiliation: Department of Internal Medicine (Cancer Research), University of Essen Medical School, Germany.
authors.forename: S C
authors.initials: SC
authors.lastname: Szymanski
authors.forename: H
authors.initials: H
authors.lastname: Hummerich
authors.forename: F
authors.initials: F
authors.lastname: Latif
authors.forename: M I
authors.initials: MI
authors.lastname: Lerman
authors.forename: G
authors.initials: G
authors.lastname: Röhrborn
authors.forename: E
authors.initials: E
authors.lastname: Schröder
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics; D002503:Centromere; D002893:Chromosomes, Human, Pair 3; D015226:Dinucleoside Phosphates / Q000235:genetics; D016521:Electrophoresis, Gel, Pulsed-Field; D015972:Gene Expression Regulation, Neoplastic; D016147:Genes, Tumor Suppressor; D008040:Genetic Linkage; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D015183:Restriction Mapping; D016615:Telomere; D014407:Tumor Cells, Cultured; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide