PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis.

摘要: Abstract Objective The molecular variation of paired domain box gene 9 (PAX9) was previously investigated by our research group and a high degree evolutionary conservation in coding non-coding regions observed except exon 3. PAX9 is transcription factor important tooth development, we wanted to verify its role dental agenesis detail. Since development complex trait also decided examine the influence another factor, muscle segment homeodomain-homeobox 1 (MSX1) on it. Design A total 360 consecutively ascertained patients seeking orthodontic treatment were screened for 33% them found have Thirty-five those with 15 controls had their DNA studied exons 2, 3, 4 adjacent (total 1476 base pairs, bp) as well MSX1 2 (698 bp). trio (a proband her parents) studied. Results Six polymorphic sites found, three 3 exon2. rs1095 derived allele occurred individuals only, two other mutations this been earlier associated agenesis. Homozygosity Ala240Pro mutation family (proband parents), suggesting recessive inheritance variable expressivity found. Conclusion Common variants located out binding genes can be related