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

J C Defesche, J E Hoogendijk, M de Visser, O de Visser, P A Bolhuis

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)1450-3
Number of pages4
JournalNeurology
Volume40
Issue number9
Publication statusPublished - Sept 1990

Keywords

  • Adolescent
  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 17
  • DNA
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Muscular Atrophy, Spinal
  • Journal Article
  • Research Support, Non-U.S. Gov't

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