Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.

Journal article

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: Brzustowicz, L; Kleyn, P; Boyce, F; Lien, L; Monaco, A

• Publication status: Published
• Journal: Genomics
• Volume: 13
• Issue: 4
• Pages: 991-998
• Publication date: 1992-08-01
• DOI: 10.1016/0888-7543(92)90012-h
• EISSN: 1089-8646
• ISSN: 0888-7543
• Language: English
• Keywords: Electrophoresis, Gel, Pulsed-Field; Female; Humans; Chromosomes, Human, Pair 5; Genetic Linkage; Microtubule-Associated Proteins; Chromosomes, Fungal; Polymorphism, Genetic; Muscular Atrophy, Spinal; Genetic Markers; DNA; Male; Molecular Sequence Data; Gene Library; Pedigree; Polymerase Chain Reaction; Base Sequence; Repetitive Sequences, Nucleic Acid; Chromosome Mapping