X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region

Hum Genet. 1991 May;87(1):23-7. doi: 10.1007/BF01213086.

Abstract

Linkage analysis was performed on 41 subjects belonging to a large family with a recurrence of X-linked Charcot-Marie-Tooth disease (CMTX), by using 12 restriction fragment length polymorphism markers mapping in p11-q13. The results are in agreement with previous linkage data. Three new markers that are potentially useful for genetic analysis of CMTX families are described. A more precise estimate of the localization of the disease locus was attempted by multipoint linkage analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • DNA / genetics
  • DNA Probes
  • Female
  • Genetic Linkage*
  • Genotype
  • Heterozygote
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • X Chromosome*

Substances

  • DNA Probes
  • DNA