Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Ching Hwa Sung; Carol M. Davenport; Jill C. Hennessey; Irene H. Maumenee; Samuel G. Jacobson; John R. Heckenlively; Rodney Nowakowski; Gerald Fishman; Peter Gouras; Jeremy Nathans

doi:10.1073/pnas.88.15.6481

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Ching Hwa Sung, Carol M. Davenport, Jill C. Hennessey, Irene H. Maumenee, Samuel G. Jacobson, John R. Heckenlively, Rodney Nowakowski, Gerald Fishman, Peter Gouras, Jeremy Nathans

Howard Hughes Medical Institution

Research output: Contribution to journal › Article › peer-review

318 Scopus citations

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.

Original language	English (US)
Pages (from-to)	6481-6485
Number of pages	5
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	88
Issue number	15
DOIs	https://doi.org/10.1073/pnas.88.15.6481
State	Published - Aug 1 1991

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Sung, C. H., Davenport, C. M., Hennessey, J. C., Maumenee, I. H., Jacobson, S. G., Heckenlively, J. R., Nowakowski, R., Fishman, G., Gouras, P., & Nathans, J. (1991). Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America, 88(15), 6481-6485. https://doi.org/10.1073/pnas.88.15.6481

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AU - Jacobson, Samuel G.

AU - Heckenlively, John R.

AU - Nowakowski, Rodney

AU - Fishman, Gerald

AU - Gouras, Peter

AU - Nathans, Jeremy

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Rhodopsin mutations in autosomal dominant retinitis pigmentosa

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