Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Academic Article uri icon

Overview

abstract

  • DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.

authors

  • Sung, Ching-Hwa
  • Davenport, C M
  • Hennessey, J C
  • Maumenee, I H
  • Jacobson, S G
  • Heckenlively, J R
  • Nowakowski, Rodney
  • Fishman, Gerald
  • Gouras, Peter
  • Nathans, Jeremy

publication date

  • August 1, 1991

Research

keywords

  • DNA
  • Genes
  • Genes, Dominant
  • Mutation
  • Retinitis Pigmentosa
  • Rhodopsin

Identity

PubMed Central ID

  • PMC52109

Scopus Document Identifier

  • 0026209385

Digital Object Identifier (DOI)

  • 10.1073/pnas.88.15.6481

PubMed ID

  • 1862076

Additional Document Info

volume

  • 88

issue

  • 15