Details

Autor(en) / Beteiligte

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

Titel

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.