Exclusion of Usher syndrome gene from much of chromosome 4

Cytogenet Cell Genet. 1989;50(2-3):102-6. doi: 10.1159/000132733.

Abstract

Usher syndrome is an autosomal recessive disease characterized by dual sensory impairments; affected individuals are born with a sensorineural hearing loss and ultimately lose their sight as retinitis pigmentosa develops. Conventional protein markers previously tested in a Louisiana Acadian kindred suggested tentative linkage to vitamin D-binding protein on chromosome 4. DNA linkage studies do not confirm this linkage relationship and exclude much of chromosome 4 as the site of the Usher syndrome gene in these families.

Publication types

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

MeSH terms

  • Blindness / genetics*
  • Chromosomes, Human, Pair 4*
  • Deafness / genetics*
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Pedigree
  • Syndrome

Substances

  • Genetic Markers