Asociación entre la variación genética de MSX1 (Hox-7) y la fisura labiopalatina no sindrómica en población chilena / Association between the genetic variation of MSX1 (Hox-7) and non syndromic cleft lip palate in chilean subjects

ABSTRACT

Background: Homeotic genes have regulatory functions during development. It has been postulated that the human Msx-1 homeotic gene can be involved in the etiology of non syndromic cleft lip palate, since its homologous Msx-1 is involved in cleft palate of mice. Aim: To perform an association analysis between the genetic variation of Msx-1 and non syndromic cleft lip palate in Chilean subjects. Patients and methods: Seventy 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 studied. Results: No differences in the genetic frequencies of Msx-1 alleles, were observed in the three groups studied. Allelic heterogeneity for allele 2 seems to be related to cases of non syndromic cleft lip palate from multiplex families and heterogeneity for allele 3 is related with simplex families cases. Conclusions: These results seem to support the hypothesis of genetic heterogeneity in the etiology of non syndromic cleft lip palate