Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1

Am J Hum Genet. 1991 Mar;48(3):518-24.

Abstract

Namaqualand spondyloepiphyseal dysplasia (NSED) is a mild autosomal dominant form of spondyloepiphyseal dysplasia in which changes are maximal in the femoral capital epiphyses and the vertebral bodies. The condition is present in a large multigeneration South African family, and it is clinically important by virtue of severe progressive degenerative osteoarthropathy of the hip joint, which frequently necessitates prosthetic joint replacement in adulthood. Linkage studies using molecular markers have shown that the loci for the NSED and type II collagen genes are linked (LOD score 7.98 at a recombination fraction of .00).

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Alleles
  • Child
  • Chromosome Mapping
  • Collagen / genetics*
  • DNA / analysis
  • Female
  • Gene Frequency
  • Genetic Linkage*
  • Genetic Markers
  • Haplotypes
  • Hip Joint / abnormalities
  • Hip Joint / diagnostic imaging
  • Humans
  • Male
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Phenotype
  • Polymorphism, Restriction Fragment Length
  • Radiography
  • Recombination, Genetic
  • Restriction Mapping

Substances

  • Genetic Markers
  • Collagen
  • DNA