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

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, L. M. Kunkel, T. C. Gilliam

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30 Scopus citations

Abstract

The microtubule-associated protein 1B (MAP1B) locus has been mapped in closed 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.

Original languageEnglish (US)
Pages (from-to)991-998
Number of pages8
JournalGenomics
Volume13
Issue number4
DOIs
StatePublished - Aug 1992
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics

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