Prenatal exclusion of Norrie's disease

Br J Ophthalmol. 1992 Aug;76(8):491-3. doi: 10.1136/bjo.76.8.491.

Abstract

We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.

MeSH terms

  • Blindness / diagnosis*
  • Blindness / genetics
  • Chromosome Mapping
  • DNA / genetics
  • DNA Probes
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Genetic Linkage
  • Genetic Markers
  • Genetic Testing / methods
  • Humans
  • Male
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis / methods*

Substances

  • DNA Probes
  • Genetic Markers
  • DNA