[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].

PURPOSE: To evaluate the potential mutation in BMP2/BMP4 genes in Chinese patients with non-syndromic hypodontia.

METHODS

Genomic DNA was isolated from blood samples of 40 non-syndromic hypodontia Chinese patients. One hundred unrelated individuals, who were not affected with tooth agenesis (excluding third molars), were used as controls. PCR was performed to amplify each exon of BMP2/BMP4 genes. Gel-purified PCR fragments were sequenced to detect mutations. SPSS13.0 software package was used to analyze the data.

RESULTS

We identified 4 single nucleotide polymorphisms (SNPs) BMP2, c.109T>G p.Ser37Ala; c.261A> G p.Ser87Ser; c.570A>T p.Arg190Ser; BMP4 c.455T> C p.Val152Ala; and a novel mutation BMP2 c.166C> G p.Arg56Gly within the family.

CONCLUSIONS

Our finding suggests that all the identified SNPs and the new mutation of BMP2 may be responsible for tooth agenesis in the participants, but the possible association requires further research.