Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

Hum Genet. 1993 Sep;92(2):133-8. doi: 10.1007/BF00219680.


Autosomal recessive spinal muscular atrophy (SMA) has been mapped to a 6-cM interval on chromosome 5q12-13.3, flanked proximally by locus D5S6 and distally by locus D5S112. In this study we describe the isolation of two new microsatellite markers (EF1/2a and EF13/14) near locus D5S125, which lies 2 cM distal to D5S6. We show by linkage analysis and the study of the recombinants in 55 SMA pedigrees that the disease lies in the 4-cM interval between EF1/2a and D5S112. Fluorescence in situ analysis of cosmids from D5S6, EF1/2 and D5S112 confirms the genetic order and relative distance of markers. The microsatellites EF1/2a and EF13/14 are the first highly polymorphic PCR-based proximal markers in SMA to be described, and will be of value in prenatal prediction of the disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5*
  • DNA, Satellite / genetics*
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Predictive Value of Tests
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Recombination, Genetic
  • Spinal Muscular Atrophies of Childhood / diagnosis*
  • Spinal Muscular Atrophies of Childhood / genetics*


  • DNA, Satellite
  • Genetic Markers