Linkage in a family with X-linked Charcot-Marie-Tooth disease

Clin Genet. 1989 Jun;35(6):399-403. doi: 10.1111/j.1399-0004.1989.tb02964.x.

Abstract

The gene for the X-linked form of Charcot-Marie-Tooth disease (CMT Peroneal Muscular Atrophy, X-linked: McKusick No. 30280) has been shown in a single family to be linked to DXYS1 with a lod score of 4.55 at a recombination fraction of 0.03 and to PGK1 with a lod score of 3.34 at zero recombination. This is in agreement with previous work based on several families. Pooled data from this family and 7 previously reported families give a maximum lod score of 12.04 at theta max of 0.05 for linkage between CMTX and DXYS1 loci.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • DNA / isolation & purification
  • DNA Probes
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Muscular Atrophy, Spinal / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers
  • DNA