Biopolymers and cell. 2008; 24 (1): 60 - 68

Study of TGFBI gene mutations in Ukrainian patients with corneal dystrophies

V. M. Pampukha, G. I. Drozhyna, L. A. Livshits

In our study Arg124Cys (exon 4), Thr538Arg, Ala546Thr, Arg555Thr, Arg55Gln (exon 12), His626Arg (exon 14) mutations of the TGFBI gene were analyzed using polymerase chain reaction followed by restriction digestion in 91 patients with different forms of corneal dystrophy and 31 clinically healthy individuals from 49 unrelated families. Our results show that TGFBI gene mutations analysis is important for differential diagnostics of corneal dystrophies with prognostic and therapeutic implications as well as for genetic consulting in high risk families.

Keywords: TGFBI gene, keratoepithelin, corneal dystrophy.