Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
-
Alexandre R Vieira [1] ; Silvia Castillo Taucher [1] ; Teresa Aravena [1] ; Carmen Astete [1] ; Patricia Sanz [1] ; María Eugenia Tastets [1] ; Luis Monasterio [3] ; Jeffrey C Murray [2]
-
[1] Universidad de Chile
Universidad de Chile
Santiago, Chile
-
[2] University of Iowa
University of Iowa
City of Iowa City, Estados Unidos
-
[3] Fundación Atención Integral Malformaciones Craneofaciales Dr. Alfredo Gantz Mann
-
- Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 132, Nº. 7, 2004, págs. 816-822
- Idioma: español
- Títulos paralelos:
- Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate
- Enlaces
-
Resumen
Background: Mutations of the MSX1 gene may contribute to nonsyndromic forms of cleft lip and/or cleft palate. Aim: To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate. Patients and Methods: We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR. Results: Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population. Conclusions: Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene (Rev Méd Chile 2004; 132: 816-22)
