Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers

Am J Hum Genet. 1991 Jun;48(6):1051-7.

Abstract

We describe two highly polymorphic microsatellite AC repeat sequences, VK23AC and VK14AC, which are closely linked to the fragile X at Xq27.3. Both VK23AC (DXS297) and VK14AC (DXS292) are proximal to the fragile site. Two-point linkage analysis in 31 fragile X families gave (a) a recombination frequency of 1% (range 0.00%-4%) with a maximum lod score of 32.04 for DXS297 and (b) a recombination frequency of 7% (range of 3%-15%) with a maximum lod score of 12.87 for DXS292. Both of these polymorphisms are applicable to diagnosis by linkage in families with fragile X syndrome. A multipoint linkage map of genetic markers at Xq27.3 was constructed from genotyping these polymorphisms in the CEPH pedigrees. The DXS292 marker is in the DXS98-DXS297 interval and in 3 cM proximal to DXS297.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Autoradiography
  • Base Sequence
  • DNA / genetics*
  • DNA, Satellite*
  • Fragile X Syndrome / genetics*
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Genetic*
  • Repetitive Sequences, Nucleic Acid*

Substances

  • DNA, Satellite
  • Genetic Markers
  • DNA