Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

P. W. Kleyn, C. H. Wang, L. L. Lien, E. Vitale, J. Pan, B. M. Ross, A. Grunn, D. A. Palmer, D. Warburton, L. M. Brzustowicz, L. M. Kunkel, T. C. Gilliam

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


The childhood spinal muscular atrophies (SMAs) are the most common, serious neuromuscular disorders of childhood second to Duchenne muscular dystrophy. A single locus for these disorders has been mapped by recombination events to a region of 0.7 centimorgan (range, 0.1-2.1 centimorgans) between loci D5S435 and MAP1B on chromosome 5q11.2-13.3. By using PCR amplification to screen yeast artificial chromosome (YAC) DNA pools and the PCR-vectorette method to amplify YAC ends, a YAC contig was constructed across the disease gene region. Nine walk steps identified 32 YACs, including a minimum of seven overlapping YAC clones (average size, 460 kb) that span the SMA region. The contig is characterized by a collection of 30 YAC-end sequence tag sites together with seven genetic markers. The entire YAC contig spans a minimum of 3.2 Mb; the SMA locus is confined to roughly half of this region. Microsatellite markers generated along the YAC contig segregate with the SMA locus in all families where the flanking markers (D5S435 and MAP1B) recombine. Construction of a YAC contig across the disease gene region is an essential step in isolation of the SMA-encoding gene.

Original languageEnglish (US)
Pages (from-to)6801-6805
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number14
StatePublished - 1993
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General


  • disease gene mapping
  • genomic walking
  • physical mapping


Dive into the research topics of 'Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region'. Together they form a unique fingerprint.

Cite this