title: Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
abstract: The childhood-onset SMA locus has been mapped to chromosome 5q13, in a region bounded by the proximal locus, D5S6, and the closely linked distal loci, D5S112 and MAP1B. We now describe a highly polymorphic, tightly linked microsatellite marker (D5S435) that is very likely the closest proximal marker to the SMA locus. Multipoint linkage analysis firmly establishes the following order of markers at 5q13: centromere-D5S76-D5S6-D5S435-MAP1B/D5S112- D5S39-telomere. The data indicate that SMA resides in an approximately 0.7-cM (range 0.1-2.1) region between D5S435 and MAP1B. This finding reduces by approximately fourfold the genetic region that most likely harbors the SMA locus and will facilitate the physical mapping and cloning of the disease gene region.
authors.affiliation: Department of Psychiatry, College of Physicians and Surgeons of Columbia University, New York, New York.
authors.forename: V M
authors.initials: VM
authors.lastname: Soares
authors.forename: L M
authors.initials: LM
authors.lastname: Brzustowicz
authors.forename: P W
authors.initials: PW
authors.lastname: Kleyn
authors.forename: J A
authors.initials: JA
authors.lastname: Knowles
authors.forename: D A
authors.initials: DA
authors.lastname: Palmer
authors.forename: S
authors.initials: S
authors.lastname: Asokan
authors.forename: G K
authors.initials: GK
authors.lastname: Penchaszadeh
authors.forename: T L
authors.initials: TL
authors.lastname: Munsat
authors.forename: T C
authors.initials: TC
authors.lastname: Gilliam
mesh_terms: D001483:Base Sequence; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D004277:DNA, Single-Stranded; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree
chemical_list: D004277:DNA, Single-Stranded; D005819:Genetic Markers; D008869:Microtubule-Associated Proteins; C085284:microtubule-associated protein 1B