title: Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
abstract: The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events establish MAP1B as a closely linked, distal flanking marker for the disease locus, while a third recombinant establishes D5S6 as the proximal flanking marker. The combination of key recombinants and linkage analysis place the SMA gene in an approximately 2-cM interval between loci D5S6 and MAP1B. Physical mapping and cloning locate MAP1B within 250 kb of locus D5S112. The identification and characterization of a highly polymorphic gene locus tightly linked to SMA will facilitate isolation of the disease gene, evaluation of heterogeneity, and development of a prenatal test for SMA.
authors.affiliation: Department of Psychiatry, Columbia University, College of Physicians and Surgeons, New York, New York.
authors.forename: L M
authors.initials: LM
authors.lastname: Brzustowicz
authors.forename: P W
authors.initials: PW
authors.lastname: Kleyn
authors.forename: F M
authors.initials: FM
authors.lastname: Boyce
authors.forename: L L
authors.initials: LL
authors.lastname: Lien
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
authors.forename: G K
authors.initials: GK
authors.lastname: Penchaszadeh
authors.forename: K
authors.initials: K
authors.lastname: Das
authors.forename: C H
authors.initials: CH
authors.lastname: Wang
authors.forename: T L
authors.initials: TL
authors.lastname: Munsat
authors.forename: J
authors.initials: J
authors.lastname: Ott
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D015825:Chromosomes, Fungal; D002895:Chromosomes, Human, Pair 5; D004247:DNA; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D015723:Gene Library; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D005819:Genetic Markers; D008869:Microtubule-Associated Proteins; C085284:microtubule-associated protein 1B; D004247:DNA