Identification of key recombinants in multiplex SMA families

Genomics. 1994 Jul 1;22(1):219-22. doi: 10.1006/geno.1994.1367.

Abstract

Recent reports have provided evidence that a major gene for autosomal recessive proximal spinal muscular atrophy (SMA) resides in a small genetic interval in bands q12-q13 of chromosome 5, a 4-cM region proximally flanked by D5S125 (EF(TG/AG)n) and distally by MAP1B/D5S112 or a 0.7-cM interval (range 0.1-2.1 cM) flanked by D5S435 proximally and MAP1B/D5S112 distally. We present the identification of key recombinants between SMA and the closest flanking DNA-markers in an analysis of Dutch and Italian SMA families. These crossovers may serve as reference points for new markers in this region and may thus be instrumental in a further refined mapping of the SMA gene. Two markers, D5S351 (I105) and D5S357 (Mfd151), could be mapped distally to SMA in the interval SMA-D5S112.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • DNA, Satellite / genetics
  • Female
  • Genes, Recessive
  • Genetic Markers
  • Haplotypes
  • Humans
  • Male
  • Muscular Atrophy, Spinal / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Recombination, Genetic*

Substances

  • DNA, Satellite
  • Genetic Markers

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