Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites

Eur J Hum Genet. 1995;3(1):56-60. doi: 10.1159/000472274.

Abstract

The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has recently been mapped between D5S629 and D5S557. We report here a new single-locus microsatellite A31 (D5S823) and two multicopy microsatellites 97T-CA and 95/23-CA. The marker A31 maps to the region of overlap between YACs y116, y55 and y122, distal to D5S629; 97T-CA originates from a cosmid corresponding to the STS 97T, localized distally to A31, while 95/23-CA derives from a cosmid corresponding to the STS 97U, localized proximally to D5S557. We tested all our key recombinant families with these markers. In one type I/II SMA family, a recombinant was found that placed the SMA locus distal to D5S823. Homozygosity mapping in a consanguineous type I SMA family indicates that the SMA gene lies proximal to 95/23-CA. Thus, the two new markers, A31 and 95/23-CA further refine the SMA gene to an approximately 750-kb interval.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping*
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 5 / genetics*
  • Consanguinity
  • DNA Probes / chemistry
  • DNA Probes / genetics
  • DNA, Satellite / genetics*
  • Female
  • Gene Dosage
  • Genetic Linkage
  • Genetic Markers / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscular Atrophy, Spinal / genetics*
  • Repetitive Sequences, Nucleic Acid / genetics

Substances

  • DNA Probes
  • DNA, Satellite
  • Genetic Markers

Associated data

  • GENBANK/X76698
  • GENBANK/X76699
  • GENBANK/X76700
  • GENBANK/X76701