Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales

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)

Bibliographic Details

Main Authors:	Vieira,Alexandre R, Castillo Taucher,Silvia, Aravena,Teresa, Astete,Carmen, Sanz,Patricia, Tastets,María Eugenia, Monasterio,Luis, Murray,Jeffrey C
Format:	Digital revista
Language:	Spanish / Castilian
Published:	Sociedad Médica de Santiago 2004
Online Access:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000700005
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