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Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa
Ist Teil von
Proceedings of the National Academy of Sciences - PNAS, 1991-08, Vol.88 (15), p.6481-6485
Ort / Verlag
Washington, DC: National Academy of Sciences of the United States of America
Erscheinungsjahr
1991
Quelle
MEDLINE
Beschreibungen/Notizen
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.