Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"

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TGFBI Gene Mutation Analysis in Families with Hereditary Corneal Dystrophies from Ukraine

Livshits L. A.1, Pampukha V. N.1, Drozhyna G. I.2
1Institute of Molecular Biology and Genetics National Academy of Science of Ukraine, Kiev/UA; 2The Filatov Institute of Eye Diseases and Tissue Therapy Academy of Medical Science of Ukraine, Odessa/UA

Purpose: Mutations in the TGFBI gene encoding keratoepithelin are responsible for the group of autosomal dominant diseases of the cornea. In Ukraine about 12% of patients who need keratoplasty are the patients with autosomal dominant corneal dystrophies.
Method: Blood samples were obtained after informed consent from 44 individuals from 18 unrelated families with different forms of corneal dystrophy from different regions of Ukraine. The exon 4 and exon 12 of the TGFBI gene mutations were examined after DNA amplification by PCR with following restriction.
Results: The R555W mutation was detected in 3 patients from 2 families with granular corneal dystrophy. The R124C mutation was detected in unaffected 10-year old individual and in 24 patients from 8 families with lattice corneal dystrophy. As far as R124C mutation was detected in patient with clinical diagnosed Reis-Bucklers corneal dystrophy we have concluded that this patient was misdiagnosed. The R124H, R124L and R555Q mutations were not detected in the rest of patients.
Conclusions: The obtained mutation analysis results are connected with wide genetical heterogenety of corneal dystrophies and i

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