Expansion of trinucleotide CTG repeats in the TCF4 gene as a marker of fuchs’ endothelial corneal dystrophy
| Autor: | V. D. Nazarov, Sanasar S. Papanyan, Sergey A. Novikov, Liliya K. Anikina, Kseniya S. Dovydenko, Sergey V. Lapin, Sergey Yu. Astakhov, Inna A. Riks |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Pathology
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities business.industry Intron TCF4 tcf4 Endothelial cell density medicine.anatomical_structure ctg repeats lcsh:Ophthalmology lcsh:RE1-994 Cornea medicine General Earth and Planetary Sciences fuchs’ endothelial corneal dystrophy In patient business Trinucleotide repeat expansion triplet repeats pcr Gene Fuchs Endothelial Corneal Dystrophy trinucleotide repeat General Environmental Science |
| Zdroj: | Офтальмологические ведомости, Vol 12, Iss 2, Pp 11-18 (2019) |
| ISSN: | 2412-5423 1998-7102 |
| Popis: | Fuchs endothelial corneal dystrophy (FECD) is an inherited severe and progressive disease, characterized by endothelial cell density decrease and increasing corneal edema. FECD development may be linked to expanded trinucleotide repeat, CTG, in the third intron of the TCF4 gene. The study focuses on estimating the prevalence of expanded CTG repeat in TCF4 gene in the Russian population, in patients with normal cornea and in patients with FECD (by applying triplet repeat PCR technique and capillary electrophoresis). 51 patients with FECD and 38 patients with normal cornea were examined. The estimation of the number of CTG triplet repeats in TCF4 gene determination is the veracious laboratory marker of FECD. |
| Databáze: | OpenAIRE |
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