title: Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
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.affiliation: Howard Hughes Medical Institute, Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
authors.forename: C H
authors.initials: CH
authors.lastname: Sung
authors.forename: C M
authors.initials: CM
authors.lastname: Davenport
authors.forename: J C
authors.initials: JC
authors.lastname: Hennessey
authors.forename: I H
authors.initials: IH
authors.lastname: Maumenee
authors.forename: S G
authors.initials: SG
authors.lastname: Jacobson
authors.forename: J R
authors.initials: JR
authors.lastname: Heckenlively
authors.forename: R
authors.initials: R
authors.lastname: Nowakowski
authors.forename: G
authors.initials: G
authors.lastname: Fishman
authors.forename: P
authors.initials: P
authors.lastname: Gouras
authors.forename: J
authors.initials: J
authors.lastname: Nathans
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D005796:Genes; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009755:Night Blindness / Q000209:etiology / Q000235:genetics; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000378:metabolism*; D014794:Visual Fields
chemical_list: D015345:Oligonucleotide Probes; D004247:DNA; D012243:Rhodopsin