[Genetic variation of MSX1 has a sexual dimorphism in non syndromic cleft palate in the Chilean population].
BACKGROUND
Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate.


OBJECTIVE
To study the linkage between non syndromic cleft palate and variations of MSX1 gene.


METHODS
Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 127 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR.


RESULTS
A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1.


CONCLUSIONS
These results support the hypothesis of a 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
C
C
Palomino
H
H
Carreño
H
H
D000483:Alleles; D002677:Chile; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051957:MSX1 Transcription Factor; D008297:Male; D012727:Sex Characteristics; D014157:Transcription Factors
D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; D014157:Transcription Factors
La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena.