title: Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease.
abstract: Nine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped to 1q12----q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, alpha-spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot-Marie-Tooth disease (CMT1) families. Close linkage of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 at 10 cM or less, alpha-spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and alpha-spectrin.
authors.affiliation: Department of Medicine, University of Sydney, New South Wales, Australia.
authors.forename: L R
authors.initials: LR
authors.lastname: Griffiths
authors.forename: M B
authors.initials: MB
authors.lastname: Zwi
authors.forename: N
authors.initials: N
authors.lastname: Mesterovic
authors.forename: D A
authors.initials: DA
authors.lastname: Ross
authors.forename: P G
authors.initials: PG
authors.lastname: Board
authors.forename: D F
authors.initials: DF
authors.lastname: Callen
authors.forename: T
authors.initials: T
authors.lastname: Mohandas
authors.forename: R
authors.initials: R
authors.lastname: Buckland
authors.forename: J M
authors.initials: JM
authors.lastname: Fletcher
authors.forename: A J
authors.initials: AJ
authors.lastname: Driesel
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D015342:DNA Probes / Q000302:isolation & purification*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree
chemical_list: D015342:DNA Probes