UNIVERSITY OF MALTA
LIFE SCIENCE RESEARCH SEMINARS
Web: http://www.um.edu.mt/events/scisem/
Email: scisem@um.edu.mt
Abstract form
Title: Mutational analysis of pax9 and msx1 genes in patients with nonsyndromic oligodontia
Presenter: Dr Eiman Mohammed Daw
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Laboratory of Molecular Genetics
00356 2340 2774
00356 2134 3535
daw.eiman@yahoo.com
17 December 2012
Abstract
Oligodontia is a congenitally absence of more than six permanent teeth. The tooth is
defined to be congenitally missing if it is not erupted in the oral cavity and not visible in a
radiograph.
The prevalence of oligodontia in population is 0.08-0.16 %. Mutations in Pax9 “paired
domain homeobox” gene and Msx1 “Muscle segment homeobox” gene are associated with
the absence of molar and premolar teeth agenesis respectively. In this project a survey was
carried out in order to determine the prevalence of oligodontia in the Maltese population.
The second part of the research aims to uncover the causative genes in two Maltese
families. This part of the research was carried out at the Laboratory of Molecular Genetics,
University of Malta, and involved a collection of saliva samples, DNA extraction, primer
optimization using gradient PCR, genotyping the samples by Real Time PCR and DNA
sequencing of all samples. The results indicated that the prevalence of oligodontia in
Maltese population is high approximately 1.5 %. DNA sequencing of Pax9 exon3 illustrated
a novel heterozygote mutation located in codon 99 in two individuals. The mutation causes
an amino acid change from Alanine to Proline. DNA sequencing of other Pax9 Msx1 exons
is still in progress.