Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15

Connect Tissue Res. 1993;29(1):13-21. doi: 10.3109/03008209309061962.

Abstract

Limb-girdle Muscular Dystrophy (LGMD) is a rare form of muscular dystrophy inherited as an autosomal recessive trait. The LGMD locus was recently mapped to chromosome 15. We tested the hypothesis that fibrillin is a candidate in the etiology of the disorder by genetic linkage analysis. A large Amish kindred segregating the disorder was genotyped for two markers specific for the fibrillin gene on chromosome 15. A total of 105 individuals were genotyped and a maximum LOD score of Z = 9. 135 at theta = 0.04 was obtained. Our results confirmed the mapping of the LGMD on chromosome 15 and excluded fibrillin as a candidate molecule. These data will be useful in the construction of a fine map of the region surrounding the LGMD locus, a prerequisite for the cloning of the LGMD gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • DNA / genetics
  • Extremities
  • Female
  • Fibrillins
  • Gene Expression / genetics
  • Genes, Recessive / genetics
  • Genetic Linkage
  • Genotype
  • Humans
  • Male
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / physiology
  • Molecular Sequence Data
  • Muscular Dystrophies / etiology*
  • Muscular Dystrophies / genetics*
  • Pedigree

Substances

  • Fibrillins
  • Microfilament Proteins
  • DNA