Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers

Cytogenet Cell Genet. 1989;50(2-3):178-80. doi: 10.1159/000132756.

Abstract

We previously described a large five-generation family with autosomal dominant inheritance of hereditary motor and sensory neuropathy type I, or Charcot-Marie-Tooth disease (CMT1). The genetic defect in this family was not linked to the Duffy blood group. We investigated the possibility of a disease locus on the short arm of chromosome 1 using 12 anonymous DNA markers. Two markers, D1S2 and D1S22, showed positive linkage, suggesting the existence of a CMT1 locus on 1p. D1S2 and D1S22 are clustered in the 1p31----p22 region. However, multipoint linkage analysis, including additional DNA markers from this chromosome region, excluded a possible CMT1 locus in this part of chromosome 1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes, Human, Pair 1*
  • Female
  • Humans
  • Lod Score
  • Male
  • Muscular Atrophy, Spinal / genetics*
  • Polymorphism, Restriction Fragment Length