Sekvenace části genu pro PAX9 a možná spojitost nalezených polymorfizmů s agenezí zubů
| Title in English | Sequencing of the region of the PAX9 gene and possible relation between discovered polymorphisms and tooth agenesis |
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| Authors | |
| Year of publication | 2014 |
| Type | Article in Periodical |
| Magazine / Source | Ortodoncie |
| MU Faculty or unit | |
| Citation | |
| Web | http://www.orthodont-cz.cz/modul/casopis_clanek/soubory/Clanek-Ortodoncie-01-2014-03.pdf |
| Field | Physiology |
| Keywords | Odontogenesis; tooth agenesis; PAX9 gene; sequencing |
| Attached files | |
| Description | Under the term tooth agenesis we understand congenital absence of one or more teeth in the dentition. 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. Polymorphism in a gene, that encodes a protein involved in odontogenesis, may cause its malfunction, which may adversely affect the tooth development and eventually stop it completely. Among the most studied genes associated with the dental agenesis belong PAX9, MSX1, AXIN2, WNT10a and EDA gene. The aim of this study was to examine the possible relation between polymorphisms in the PAX9 gene and tooth agenesis on Czech population. The analysis was based on DNA sequencing of selected regions of the PAX9 gene and consequent comparison of resulting sequences with the reference sequence from GenBank online database (NCBI). The most important results of our study on Czech population seem to be insertion 99–101insC (rs138135767, rs11373281) with simultaneous substitution 272C>G (rs4904155; heterozygous and homozygous) in exon 1 and variants -54A>G (rs12882923), -41A>G (rs12883049) and 605C>T (Gly203Gly, rs61754301) in exon 3, that will be studied further for their possible effect on tooth agenesis in Czech population. |
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