[Molecular-genetic basis of tapetoretinal degeneration].
The review on problem tapetoretinal degeneration (TD) which represents serious enough and incurable disease revealed with frequency 1 : 3500-5000 in general population is presented. The most often reason of occurrence TD are mutations in RHO, RDS and RPE65 genes. The precise interrelation of pigmentary degenerations of a retina and mutations in genes RHO, RDS and RPE65 will allow to develop approaches of DNA--diagnostics of hereditary dystrophies of a retina so frequently meeting in clinical practice of the ordinary ophthalmologist, and also to pass at medical genetics consultation from probability estimations of risk of disease to unequivocal. Also the molecular analysis of genes changes in the providing correct functioning of photoreceptors and pigmentary epithelium of a retina and determining pathological changes at TD, will allow to approach to understanding of the physiological and pathological processes proceeding in a retina and by that will serve becoming and development pathogenic to caused therapy TD closer.
Dzhemileva
L U
LU
Grinberg
E R
ER
Tazetdinov
A M
AM
Zaĭĭdullin
I S
IS
Bibkov
M M
MM
Musina
V V
VV
Khusnutdinova
E K
EK
D000818:Animals; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005817:Genetic Counseling; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D064531:Peripherins; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
D002352:Carrier Proteins; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; D012243:Rhodopsin; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase; C578997:PRPH2 protein, human