Pampukha V. TGFBI gene mutations in the patients with inherited corneal stromal dystrophies

Object - inherited corneal stromal dystrophy. Goal - study spectrum and origin TGFBI gene mutations in the patients with inherited corneal stromal dystrophies, to analyse the association between mutations and clinical forms of corneal dystrophy. Methods - isolation and purification of genomic DNA, polymerase chain reaction, restriction analysis, electrophores in agarose and polyacrylamide gels, sequencing of DNA. Results and their novelty - The data about the spectrum of TGFBI gene mutations was obtained. The data suggest an independet origin of TGFBI gene mutations. The study demonstrated that certain mutations in TGFBI gene are distinctly associated with particular clinical forms of corneal dystrophies. A new mutation in TGFBI gene, Leu558Pro, was identified in the patients with atypical corneal dystrophy. The field is molecular genetics.