Expansion of trinucleotide CTG repeats in the TCF4 gene as a marker of fuchs’ endothelial corneal dystrophy

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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.

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Sanasar Papanyan

Pavlov First Saint Petersburg State Medical University

编辑信件的主要联系方式.
Email: Dr.papanyan@yandex.ru
ORCID iD: 0000-0003-3766-2211
SPIN 代码: 9794-4692

MD, Aspirant, Ophthalmology Department

俄罗斯联邦, Saint Petersburg

Sergey Astakhov

Pavlov First Saint Petersburg State Medical University

Email: astakhov73@mail.ru
SPIN 代码: 7732-1150

MD, PhD, DMedSc, Professor, Head of the Department

俄罗斯联邦, Saint Petersburg

Vladimir Nazarov

Pavlov First Saint Petersburg State Medical University

Email: nazarov19932@mail.ru
ORCID iD: 0000-0002-9354-8790

Research Fellow, Laboratory of Autoimmune Diagnostics, Center for Molecular Medicine

俄罗斯联邦, Saint Petersburg

Sergey Lapin

Pavlov First Saint Petersburg State Medical University

Email: svlapin@mail.ru
ORCID iD: 0000-0002-4998-3699

MD, PhD, Head, Laboratory of Autoimmune Diagnostics, Center for Molecular Medicine

俄罗斯联邦, Saint Petersburg

Sergey Novikov

Pavlov First Saint Petersburg State Medical University

Email: serg2705@yandex.ru

MD, PhD, DMedSc, Professor, Ophthalmology Department

俄罗斯联邦, Saint Petersburg

Inna Riks

Pavlov First Saint Petersburg State Medical University

Email: riks0503@yandex.ru

MD, PhD, Assistant. Ophthalmo­logy department

俄罗斯联邦, Saint Petersburg

Liliya Anikina

Pavlov First Saint Petersburg State Medical University

Email: lily-sai@yandex.ru

Student of 6th year

俄罗斯联邦, Saint Petersburg

Kseniya Dovydenko

Pavlov First Saint Petersburg State Medical University

Email: ksenisens@gmail.com
ORCID iD: 0000-0002-8190-7223

Student of 6th year

俄罗斯联邦, Saint Petersburg

参考

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版权所有 © Papanyan S.S., Astakhov S.Y., Nazarov V.D., Lapin S.V., Novikov S.A., Riks I.A., Anikina L.K., Dovydenko K.S., 2019

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