A genetic linkage study of a kindred with X-linked retinitis pigmentosa

Br J Ophthalmol. 1985 May;69(5):340-7. doi: 10.1136/bjo.69.5.340.

Abstract

A large kindred with X-linked retinitis pigmentosa (XLRP) was investigated clinically and by means of genetic linkage with a view to developing methods of carrier detection and early diagnosis. A restriction fragment length polymorphism, identified by recombinant DNA probe L1.28, showed close genetic linkage to XLRP in this kindred and is a potentially useful marker for the purposes of genetic counselling.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA, Recombinant
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Genetic Carrier Screening
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Sex Chromosome Aberrations / genetics
  • X Chromosome

Substances

  • DNA, Recombinant