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@proceedings{883909,
author = {Linhartová, Petra and Lochman, Jan and Krejčí, Přemysl and Matalová, Eva and Míšek, Ivan and Šerý, Omar},
booktitle = {XIV. Setkání biochemiků a molekulárních biologů. Brno: Masarykova univerzita},
keywords = {PAX9;polymorphism;mutation;hypodontia},
language = {eng},
isbn = {978-80-210-5164-5},
title = {Hypodontia: Molecular analysis of PAX9 gene},
year = {2010}
}
TY - CONF
ID - 883909
AU - Linhartová, Petra - Lochman, Jan - Krejčí, Přemysl - Matalová, Eva - Míšek, Ivan - Šerý, Omar
PY - 2010
TI - Hypodontia: Molecular analysis of PAX9 gene
SN - 9788021051645
KW - PAX9;polymorphism;mutation;hypodontia
N2 - 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 much progress 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 function.
ER -
LINHARTOVÁ, Petra, Jan LOCHMAN, Přemysl KREJČÍ, Eva MATALOVÁ, Ivan MÍŠEK a Omar ŠERÝ. Hypodontia: Molecular analysis of PAX9 gene. In \textit{XIV. Setkání biochemiků a molekulárních biologů. Brno: Masarykova univerzita}. 2010. ISBN~978-80-210-5164-5.
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