ASSOCIATION BETWEEN THE GENETIC-VARIATION OF MSX1 (HOX-7) AND NON SYNDROMIC CLEFT-LIP PALATE IN CHILEAN SUBJECTS

Background: Homeotic genes have regulatory functions during developmen t. It has been postulated that the human Msx-1 homeotic gene can be in volved in the etiology of non syndrome cleft lip palate, since its hom ologous Msx-1 involved in cleft palate of mice. Aim: To perform an ass ociation analysis between the genetic variation of Msx-1 and non syndr omic cleft lip palate in Chilean subjects. Patients and methods: Seven ty patients with non syndromic cleft lip palate, 136 healthy relatives of these patients and 69 non related normal individuals were studied. CA microsatellite in Msx-gene, that was amplified with PCR, was studi ed. Results: No differences in the genetic frequencies of Msx-1 allele s, were observed in the three groups studied. Allelic heterogeneity fo r allele 2 seems to be related to cases of non syndromic cleft lip pal ate from multiplex families and heterogeneity for allele 3 is related with simplex families cases. Conclusions: These results seem to suppor t the hypothesis of genetic heterogeneity in the etiology of non syndr omic cleft lip palate.