[Association of the genetic variation of (MSX1-7) and non syndromic cleft lip palate in Chilean subjects].
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.


OBJECTIVE
To perform an association analysis between the genetic variation of Msx-1 and non syndromic cleft lip palate in Chilean subjects.


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.
Blanco
R
R
Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Jara
L
L
Villaseca
M C
MC
D000483:Alleles; D002677:Chile; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005801:Genes, Homeobox / Q000235:genetics; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051957:MSX1 Transcription Factor; D014157:Transcription Factors
D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; D014157:Transcription Factors
Asociación entre la variación genética de MSX1 (Hox-7) y la fisura labiopalatina no sindrómica en población chilena.