Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region

• DOI: 10.4274/tjo.galenos.2019.55770
• Publication Date: 2020-04-29T09:43:08Z
• Authors: Fatma Malkondu; Hilal Arıkoğlu; Dudu Erkoç Kaya; Banu Bozkurt; Fehmi Özkan
• Keywords: TGFBI; Corneal dystrophy; BETA (programming language)

Granular corneal dystrophies (GCD) are characterized by small, discrete, sharp-edged, grayish-white opacities in the stroma. Among genes responsible for development of GCD, most strongly related gene is transforming growth factor beta-induced (TGFBI), located 5q31.1 locus. Studies show that R124H exon 4 and R555W 12 hot-spot mutations TGFBI lead to GCD development. In this study, we aimed investigate these two exons other possible same regions, which code important functional regions protein, Turkish families with determine relationship between disease phenotypes.The study included 16 individuals diagnosed type 1 (GCD1), 11 patients' healthy relatives, 28 unrelated individuals. DNA was obtained from peripheral blood samples taken each individual polymerase chain reaction used amplify target regions. Genotyping studies were done sequence analysis.The R124S mutation not detected patients or our study. However, all as having GCD1 found be heterozygous carriers TGFBI. This family members control families. addition, silent F540F c.32924 G>A substitution an intronic region a few individuals.Our supports association gene, reported literature.