title: Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17.
abstract: The von Recklinghausen neurofibromatosis 1 (NF1) locus has been previously assigned to the proximal long arm of chromosome 17, and two NF1 patients have been identified who have constitutional balanced translocations involving 17q11.2. We have constructed a cosmid library from a chromosome-mediated gene transfectant, KLT8, that contains approximately 10% of chromosome 17, including 17q11.2. Cosmids isolated from this library have been mapped across a panel of somatic cell hybrids, including the hybrids from the two patients, and have been localized to seven small regions of proximal 17q. We have 5 cosmids that map directly above the two NF1 translocations, and 11 cosmids that map directly below. Of these, 2 cosmids in each region are linked to the disease locus and 3 of these cosmids show no recombination. One distal cosmid, 2B/B35, detects the two NF1 translocations by pulsed-field gel analysis and has been used to produce a long-range restriction map that covers the translocations.
authors.affiliation: Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom.
authors.forename: M K
authors.initials: MK
authors.lastname: Yagle
authors.forename: G
authors.initials: G
authors.lastname: Parruti
authors.forename: W
authors.initials: W
authors.lastname: Xu
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
authors.forename: E
authors.initials: E
authors.lastname: Solomon
mesh_terms: D015139:Blotting, Southern; D002460:Cell Line; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003360:Cosmids; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D015723:Gene Library; D008040:Genetic Linkage; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics*; D011995:Recombination, Genetic; D015183:Restriction Mapping; D014162:Transfection
chemical_list: D004247:DNA