Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17

Neurology. 1990 Sep;40(9):1450-3. doi: 10.1212/wnl.40.9.1450.

Abstract

Hereditary motor and sensory neuropathy type 1 (HMSN I) is an autosomal dominant disorder genetically localized on chromosome 1 in a few families and on chromosome 17 in other families. We analyzed linkage between 6 markers of chromosome 1, 2 markers of chromosome 17, and the HMSN I locus using restriction fragment length polymorphisms and serotyping for the Duffy blood group in 5 families with HMSN I. Only in 1 of these families is linkage present between the disease locus and the loci for Duffy blood group and glucocerebrosidase (chromosome 1 markers). In the 4 other families the HMSN I locus is linked to the chromosome 17 markers pEW301 and pA10-41.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 17*
  • DNA / genetics
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Muscular Atrophy, Spinal / genetics*

Substances

  • Genetic Markers
  • DNA