Hypodontia: Molecular analysis of PAX9 gene

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F10%3A00056953" target="_blank" >RIV/00216224:14310/10:00056953 - isvavai.cz</a>

Výsledek na webu

—

DOI - Digital Object Identifier

—

Jazyk výsledku

angličtina

Název v původním jazyce

Hypodontia: Molecular analysis of PAX9 gene

Popis výsledku v původním jazyce

The congenital absence of teeth is one of the commonest developmental abnormalities seen in human populations. Familial hypodontia or oligodontia represents an absence of varying numbers of primary and/or secondary teeth as an isolated trait. While muchprogress has been made in understanding the developmental basis of tooth formation; knowledge of the etiological basis of inherited tooth loss remains poor. PAX9 gene that encodes transcription factor plays critical role during early craniofacial development. Until now, 14 mutations of PAX9 gene affecting tooth development have been found in PAX9 exons. In our project we screened by DNA sequencing 3 PAX9 exons in 25 patients with hypodontia or oligodontia. We found G93C polymorphism and G263C polymorphism in first exon and Ala203Val mutation in third exon of PAX9 gene. We do not expect that these polymorphisms and mutations causes hypodontia or oligodontia of patients in our research group because they have no impact on basic protein fu

Název v anglickém jazyce

Hypodontia: Molecular analysis of PAX9 gene

Popis výsledku anglicky

The congenital absence of teeth is one of the commonest developmental abnormalities seen in human populations. Familial hypodontia or oligodontia represents an absence of varying numbers of primary and/or secondary teeth as an isolated trait. While muchprogress has been made in understanding the developmental basis of tooth formation; knowledge of the etiological basis of inherited tooth loss remains poor. PAX9 gene that encodes transcription factor plays critical role during early craniofacial development. Until now, 14 mutations of PAX9 gene affecting tooth development have been found in PAX9 exons. In our project we screened by DNA sequencing 3 PAX9 exons in 25 patients with hypodontia or oligodontia. We found G93C polymorphism and G263C polymorphism in first exon and Ala203Val mutation in third exon of PAX9 gene. We do not expect that these polymorphisms and mutations causes hypodontia or oligodontia of patients in our research group because they have no impact on basic protein fu

Druh

O - Ostatní výsledky

CEP obor

CE - Biochemie

OECD FORD obor

—

Projekt

<a href="/cs/project/NT11420" target="_blank" >NT11420: Molekulární diagnostika hypodoncie a možnosti zubních autotransplantací</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2010

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů