A gene for hereditary multiple exostoses maps to chromosome 19p

Hum Mol Genet. 1994 May;3(5):717-22. doi: 10.1093/hmg/3.5.717.

Abstract

Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives additional support to the view that EXT is a genetically heterogeneous condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • Chromosomes, Human, Pair 8
  • Exostoses, Multiple Hereditary / classification
  • Exostoses, Multiple Hereditary / genetics*
  • Female
  • Genes, Dominant*
  • Humans
  • Lod Score
  • Male
  • Pedigree