Home Bratislava Medical Journal 2015 Bratislava Medical Journal Vol.116, No.8, p.465–468, 2015

Journal info


Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.564


Aims and Scope
Editorial Info
Submission Guidelines

Select Journal

Webshop Cart

Your Cart is currently empty.

Info: Your browser does not accept cookies. To put products into your cart and purchase them you need to enable cookies.

Bratislava Medical Journal Vol.116, No.8, p.465–468, 2015

Title: Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias
Author: L. Kotysova, S. Mattosova, J. Chandoga

Abstract: achondroplasia (ACH) and hypochondroplasia (HCH) into the routine practice.
BACKGROUND: Both disorders are usually caused by de novo gain-of-function type mutations in FGFR3 gene encoding the fibroblast growth factor receptor 3, which plays an important role in the metabolism of connective tissues. More than 99 % of ACH cases are caused by the glycine-to-arginine substitution at codon 380 and about 70 % of HCH cases result from the asparagine-to-lysine/-serine/-threonine substitutions at codon 540 in the consequence of the four different possible nucleotide
changes occurred at the same codon.
METHODS: Exons 10 and 13 of theFGFR3 gene were analysed by PCR-RFLP and sequencing analysis. The exon 13 sequencing was necessary for mutation type specification.
RESULTS: We confirmed the diagnosis of ACH due to 1138G→A transition in 7 patients and we identified 1620C→A transversion responsible for HCH in 2 patients.
CONCLUSION: Due to serious limitations in recently used methods, we had to modify the molecular-genetic di-agnostics approach. We developed the reliable diagnostics and made it available for achondroplasia and hypochondroplasia suspected patients (Tab. 1, Ref. 5, Ref. 17).

Keywords: achondroplasia, hypochondroplasia, FGFR3 gene, 1138 G-to-A transition, 1620 C-to-A tranversion
Published online: 24-Aug-2015
Year: 2015, Volume: 116, Issue: 8 Page From: 465, Page To: 468

download file

© AEPress s.r.o
Copyright notice: For any permission to reproduce, archive or otherwise use the documents in the ELiS, please contact AEP.