title: [TGFBI gene mutations in the Ukrainian patients with inherited corneal stromal dystrophies].
abstract: Mutations Arg124Cys, Thr538Arg, Arg555Thr, Arg555Gln, Leu558Pro, and His626Arg in TGFBI gene were analyzed by polymerase chain reaction and restriction in 84 patients with various forms of corneal stromal dystrophies from 49 unrelated families and 29 clinically healthy relatives of these patients. A new mutation in TGFBI gene, Leu558Pro, was identified in the patients with atypical lattice dystrophy. The haplotypes of four microsatellite markers surrounding TGFBI gene region were analyzed in 22 families. The data on association of genotype and phenotype suggest that the analysis of TGFBI gene mutations is important for differential diagnostics of corneal dystrophies.
authors.forename: V N
authors.initials: VN
authors.lastname: Pampukha
authors.forename: S A
authors.initials: SA
authors.lastname: Kravchenko
authors.forename: F
authors.initials: F
authors.lastname: Tereshchenko
authors.forename: G I
authors.initials: GI
authors.lastname: Drozhzhina
authors.forename: L A
authors.initials: LA
authors.lastname: Livshits
mesh_terms: D019943:Amino Acid Substitution; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D014455:Ukraine
chemical_list: D053773:Transforming Growth Factor beta1