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Bratislava Medical Journal 2015 Bratislava Medical Journal Vol.116, No.8, p.465–468, 2015
Bratislava Medical Journal 2015 Bratislava Medical Journal Vol.116, No.8, p.465–468, 2015
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Bratislava Medical Journal Vol.116, No.8, p.465–468, 2015 |
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| 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). |
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| 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 | |
| doi:10.4149/BLL_2015_087 |
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