a 2014

The possible relationship between PAX9 gene polymorphisms and tooth agenesis in the Czech population

HLOUŠKOVÁ, Alena, Ondřej BONCZEK, Ivan MÍŠEK, Přemysl KREJČÍ, Jan LOCHMAN et. al.

Basic information

Original name

The possible relationship between PAX9 gene polymorphisms and tooth agenesis in the Czech population

Authors

HLOUŠKOVÁ, Alena (203 Czech Republic, belonging to the institution), Ondřej BONCZEK (203 Czech Republic, belonging to the institution), Ivan MÍŠEK (203 Czech Republic), Přemysl KREJČÍ (203 Czech Republic), Jan LOCHMAN (203 Czech Republic, belonging to the institution) and Omar ŠERÝ (203 Czech Republic, guarantor, belonging to the institution)

Edition

XVI. Setkání biochemiků a molekulárních biologů, 2014

Other information

Language

English

Type of outcome

Konferenční abstrakt

Field of Study

30105 Physiology

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

RIV identification code

RIV/00216224:14310/14:00080151

Organization unit

Faculty of Science

ISBN

978-80-210-7340-1

Keywords in English

Odontogenesis; tooth agenesis; PAX9 gene; sequencing
Změněno: 17/1/2015 15:29, prof. RNDr. Omar Šerý, Ph.D.

Abstract

ORIG CZ

V originále

Tooth agenesis is the most prevalent craniofacial congenital malformation in humans. Under the term tooth agenesis we understand absence of one or more teeth in the dentition. Up to 25 % of the population may lose at least one third molar. Agenesis of other permanent teeth, excluding third molars, ranges from 1,6 to 9,6 %, depending on the population studied. Primary dentition may also be affected, but with lower prevalence (from 0,5 to 0,9 %). This disorder can have a variety of causes – from the influence of local causes during the formation of tooth germs primarily to the influence of genetic factors. Odontogenesis is very complicated and complex process involving over 300 so far identified that mediate interplay between cells of dental epithelium and adjacent mesenchyme. These molecules interact each other and create a complex system of regulatory linkages which monitors and controls the entire process of odontogenesis. Polymorphism in a gene, that encodes a protein involved in odontogenesis, may cause its malfunction. Even a very small change in the protein or regulatory process that is involved in spatio-temporally cohesion between the individual protein interactions, can adversely affect the tooth development and eventually stop it completely. Among the most studied genes associated with the tooth agenesis belong PAX9, MSX1 and AXIN2 genes. We focused on PAX9 gene as one of the transcription factors and examined the possible relationship between the PAX9 gene polymorphisms and tooth agenesis in the Czech population. The most important results of our study seem to be insertion 99–101insC with simultaneous substitution 272C in exon 1, substitution 605C in exon 3 and substitutions -54A and -41A in intron sequences adjacent to exon 3, that will be studied further for their possible effect on tooth agenesis in the Czech population.

In Czech

Cílem této studie bylo najít možný vztah mezi polymorfizmy v genu pro PAX9 a agenezí zubů na vzorku české populace. Z výsledků námi provedené studie na české populaci se jeví jako nejvýznamnější inzerce 99–101insC (rs138135767, rs11373281) se současnou záměnou 272C>G (rs4904155; heterozygotní i homozygotní) v exonu 1 a varianty -54A>G (rs12882923), -41A>G (rs12883049) a 605C>T (Gly203Gly, rs61754301) v exonu 3, které budou dále studovány pro jejich možný vliv na ageneze zubů v české populaci.

Links

NT11420, research and development project
Name: Molekulární diagnostika hypodoncie a možnosti zubních autotransplantací