title: Two NF1 translocations map within a 600-kilobase segment of 17q11.2.
abstract: Balanced translocations, each involving chromosome 17q11.2, have been described in two patients with von Recklinghausen neurofibromatosis (NF1). To better localize the end points of these translocation events, and the NF1 gene (NF1) itself, human cosmids were isolated and mapped in the immediate vicinity of NF1. One cosmid probe, c11-1F10, demonstrated that both translocation breakpoints, and presumably NF1, are contained within a 600-kilobase Nru I fragment.
authors.affiliation: Howard Hughes Medical Institute, University of Utah, Salt Lake City 84132.
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
authors.forename: R
authors.initials: R
authors.lastname: Leach
authors.forename: R M
authors.initials: RM
authors.lastname: Cawthon
authors.forename: M
authors.initials: M
authors.lastname: Culver
authors.forename: J
authors.initials: J
authors.lastname: Stevens
authors.forename: D
authors.initials: D
authors.lastname: Viskochil
authors.forename: R E
authors.initials: RE
authors.lastname: Fournier
authors.forename: D C
authors.initials: DC
authors.lastname: Rich
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: R
authors.initials: R
authors.lastname: White
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003360:Cosmids; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D004586:Electrophoresis; D008040:Genetic Linkage; D006801:Humans; D006822:Hybrid Cells; D009456:Neurofibromatosis 1 / Q000235:genetics*; D051381:Rats; D014178:Translocation, Genetic
chemical_list: D004262:DNA Restriction Enzymes; C055654:endodeoxyribonuclease NruI; D015252:Deoxyribonucleases, Type II Site-Specific