[Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].

Mitochondrial DNA (mtDNA) mutations play an important role in etiology of hereditary hearing loss. In various regions of the world, patients suffer from nonsyndromic sensorineural hearing loss initiated by aminoglycoside antibiotics. Mutations that had been shown as pathogenetically important for hearing function disturbance were identified in mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes while pathogenic role of several DNA sequences requires additional studies.

[Molecular genetics of Usher syndrome].

Usher syndrome (USH) is inherited in an autosomal recessive mode. The disease is characterized by hearing loss, progressing vision loss, and vestibular dysfunction. In most cases, it is the reason for deafness and blindness in school-age children.

[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.