Linkage investigations in two families with hereditary ataxia

J Neurol Neurosurg Psychiatry. 1981 Jun;44(6):516-22. doi: 10.1136/jnnp.44.6.516.

Abstract

In two families with autosomal dominant olivopontocerebellar atrophy (type IV), 15 affected and 44 unaffected members were typed for 28 genetic markers, including HLA. The lod scores for a possible HLA linkage, plotted against recombination fractions from 0.01 to 0.4, were negative. No evidence emerged for the presence of the ataxia-locus within measurable distance of the HLA-loci on chromosome 6. No indications were obtained that the ataxia-gene is linked with one of the other marker-genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Blood Group Antigens / genetics
  • Child
  • Enzymes / genetics
  • Female
  • Friedreich Ataxia / diagnosis
  • Friedreich Ataxia / genetics*
  • Genetic Linkage*
  • HLA Antigens / genetics*
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree

Substances

  • Blood Group Antigens
  • Enzymes
  • HLA Antigens