Linkage analysis in the fragile X syndrome using multiple distal Xq polymorphic DNA markers

Am J Med Genet. 1991 Feb-Mar;38(2-3):298-304. doi: 10.1002/ajmg.1320380227.

Abstract

Linkage data using the polymorphic loci F9, DXS105, DXS98, DXS52, DXS15, and F8 and the DNA probe 1A1 are presented from 14 families segregating for fragile X [fra(X)] syndrome. Recombination fractions corresponding to the maximum LOD scores obtained by two-point linkage analysis suggest that DXS98 (Zmax = 3.23, theta = 0.0) and DXS105 (Zmax = 2.09, theta = 0.0) are the closest markers proximal to FRAXA and that DXS52 is the closest distal marker (Zmax = 3.55, theta = 0.16). FRAXA is located within a 25 cM interval between F9 and DXS52, coincident with DXS98, on multipoint linkage analysis. Phase-known three way crossover information places F8 outside the cluster (DXS52, DXS15, 1A1). Confidence limits for the markers DXS98 and DXS52 are relatively wide (0.0-0.15 and 0.06-0.31, respectively), but when used in combination with cytogenetic examination offer improved carrier detection in comparison with cytogenetic analysis alone.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • DNA / analysis
  • DNA Probes*
  • Fragile X Syndrome / genetics*
  • Genetic Markers
  • Humans
  • Lod Score
  • Pedigree
  • Polymorphism, Restriction Fragment Length*

Substances

  • DNA Probes
  • Genetic Markers
  • DNA