Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. |
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| Authors: | L M Brzustowicz P W Kleyn F M Boyce L L Lien A P Monaco G K Penchaszadeh K Das C H Wang T L Munsat J Ott |
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| Institution: | Department of Psychiatry, Columbia University, College of Physicians and Surgeons, New York, New York. |
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| 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. |
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