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Science 10 June 1994: Vol. 264. no. 5165, pp. 1604 - 1608 DOI: 10.1126/science.8202715
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Articles
Science, Vol 264, Issue 5165, 1604-1608
Copyright © 1994 by American Association for the Advancement of Science
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
K Kajiwara,
EL Berson,
and
TP Dryja
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.
In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). These findings indicate that the allelic and nonallelic heterogeneity known to be a feature of monogenic RP is complicated further by interactions between unlinked mutations causing digenic RP. Recognition of the inheritance pattern exemplified by these three families might facilitate the identification of other examples of digenic inheritance in human disease.
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