The Relationship between PAX9 Gene Mutations and Tooth Agenesis in Czech Population

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F12%3A00064887" target="_blank" >RIV/00216224:14310/12:00064887 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

The Relationship between PAX9 Gene Mutations and Tooth Agenesis in Czech Population

Popis výsledku v původním jazyce

Tooth development (odontogenesis) is a very complicated and complex process that involves interplay between oral ectoderm and mesenchyme. These interactions are mediated by more than 300 signaling molecules including Pax9, Msx1 and Axin2. Tooth agenesisis the most prevalent craniofacial congenital malformation in humans. Pax9 is a transcription factor that is named according to the presence of DNA binding ?paired? domain. It interacts with Msx1 and mutations in PAX9 and MSX1 genes were associated withseveral type of tooth agenesis. The aim of this work was to study mutations of the first three exons sequences of PAX9 gene. DNA was isolated with UltraClean BloodSpin DNA Isolation Kit (Mo-Bio). Blood samples or buccal swabs from 200 Czech patients withvarious types of tooth agenesis were used for this purpose. Amplicons were sequenced with ABI 3130 Prism (Applied Biosystems). Finally, sequences were compared with standard sequences of PAX9 gene.

Název v anglickém jazyce

The Relationship between PAX9 Gene Mutations and Tooth Agenesis in Czech Population

Popis výsledku anglicky

Tooth development (odontogenesis) is a very complicated and complex process that involves interplay between oral ectoderm and mesenchyme. These interactions are mediated by more than 300 signaling molecules including Pax9, Msx1 and Axin2. Tooth agenesisis the most prevalent craniofacial congenital malformation in humans. Pax9 is a transcription factor that is named according to the presence of DNA binding ?paired? domain. It interacts with Msx1 and mutations in PAX9 and MSX1 genes were associated withseveral type of tooth agenesis. The aim of this work was to study mutations of the first three exons sequences of PAX9 gene. DNA was isolated with UltraClean BloodSpin DNA Isolation Kit (Mo-Bio). Blood samples or buccal swabs from 200 Czech patients withvarious types of tooth agenesis were used for this purpose. Amplicons were sequenced with ABI 3130 Prism (Applied Biosystems). Finally, sequences were compared with standard sequences of PAX9 gene.

Druh

O - Ostatní výsledky

CEP obor

ED - Fyziologie

OECD FORD obor

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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

2012

Kód důvěrnosti údajů

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