Fogorvosi szemle, 2007 (100. évfolyam, 1-6. szám)

2007-10-01 / 5. szám

272

FOGORVOSI SZEMLE

100. évf. 5. sz. 2007.

only described exception is a Polish family where a less serious phenotype was observed [30]. The only population level study was carried out in Rio de Janeiro, in Brazil. Those data suggest that there is a relationship between missing teeth, the Msx1, Pax9 genes and TGF-a gene markers (which is actually regulated by Msx1 and Pax9), but further studies are needed to understand the exact relationship between these factors [23].

In the present work we studied two different potential polymorphism positions of the Pax9 gene. In both cases we demonstrated the presence of the wild type and the rare alleles in our population in spite of the small sample number. Our data confirm the previously published data about the existence of these polymorphisms of the Pax9 gene [10, 15].

Our results are primarily methodological and clearly show the feasibility of such studies. On this basis now we can perform population studies with large sample numbers to compare polymorphisms of a number of genes in healthy and diseased groups. Our long term goal is to identify the single nucleotide polymorphisms participating in the development of the diseases by population genetics/genomics methods including high capacity genotyping systems as well. The results may lead to the development of new diagnostic strategies and may promote the early identification of risk factors. These achievements then can help in the primary control of the diseases and can also project the potential of gene therapy tools in the correction of genetic deformities.

I

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