Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3

Eur J Hum Genet. 2000 Oct;8(10):809-12. doi: 10.1038/sj.ejhg.5200547.

Abstract

We previously mapped a distinctive autosomal dominant vacuolar neuromyopathy on human chromosome 19p13 in an 8cM region, delimited by D19S209 and D19S177 markers. We now report the fine mapping of the disease locus within an interval of 250 Kb by haplotype analysis performed using a set of 11 novel microsatellite markers isolated from the candidate region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics*
  • DNA / analysis
  • DNA Primers / chemistry
  • Female
  • Gene Frequency
  • Genes, Dominant / genetics*
  • Genotype
  • Haplotypes
  • Heterozygote
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics*
  • Muscles / physiology
  • Muscles / physiopathology
  • Neuromuscular Diseases / genetics*
  • Neuromuscular Diseases / pathology
  • Neuromuscular Diseases / physiopathology
  • Pedigree
  • Physical Chromosome Mapping / methods*
  • Polymerase Chain Reaction

Substances

  • DNA Primers
  • DNA

Grants and funding