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Paper Chase

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Proc. Natl. Acad. Sci. U.S.A.. Oct 15, 1991;88(20):9370-4.
Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL.

Howe Laboratory of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston.

Abstract:

We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these mutations is a single-base substitution corresponding to a single amino acid substitution. Based on current models for the structure of rhodopsin, 3 of the 17 mutant amino acids are normally located on the cytoplasmic side of the protein, 6 in transmembrane domains, and 8 on the intradiscal side. Forty-three of the 150 patients (29%) carry 1 of these mutations, and no patient has more than 1 mutation. In every family with a mutation so far analyzed, the mutation cosegregates with the disease. We found one instance of a mutation in an affected patient that was absent in both unaffected parents (i.e., a new germ-line mutation), indicating that some "isolate" cases of retinitis pigmentosa carry a mutation of the rhodopsin gene.