Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

CH Sung, CM Davenport… - Proceedings of the …, 1991 - National Acad Sciences
CH Sung, CM Davenport, JC Hennessey, IH Maumenee, SG Jacobson, JR Heckenlively…
Proceedings of the National Academy of Sciences, 1991National Acad Sciences
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 …
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.
National Acad Sciences