Publikationsdatum:
1994-06-10
Beschreibung:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kajiwara, K -- Berson, E L -- Dryja, T P -- EY00169/EY/NEI NIH HHS/ -- EY08683/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 1994 Jun 10;264(5165):1604-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8202715" target="_blank"〉PubMed〈/a〉
Schlagwort(e):
Alleles
;
Amino Acid Sequence
;
Base Sequence
;
Electroretinography
;
Eye Proteins/chemistry/*genetics
;
Female
;
Genes, Dominant
;
Genes, Recessive
;
Genetic Linkage
;
Heterozygote
;
Humans
;
Intermediate Filament Proteins/chemistry/*genetics
;
Male
;
*Membrane Glycoproteins
;
Membrane Proteins/chemistry/*genetics
;
Molecular Sequence Data
;
Mutation
;
*Nerve Tissue Proteins
;
Pedigree
;
Peripherins
;
Retinitis Pigmentosa/*genetics
;
Rod Cell Outer Segment/chemistry
;
Tetraspanins
Print ISSN:
0036-8075
Digitale ISSN:
1095-9203
Thema:
Biologie
,
Chemie und Pharmazie
,
Informatik
,
Medizin
,
Allgemeine Naturwissenschaft
,
Physik
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