Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales / Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate
Rev. méd. Chile
;
132(7): 816-822, jul. 2004. ilus, tab
Article
Dans Espagnol
| LILACS
| ID: lil-366581
ABSTRACT
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 andMethods:
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Gènes homéotiques
/
Bec-de-lièvre
/
Fente palatine
Limites du sujet:
Humains
Pays comme sujet:
Amérique du Sud
/
Chili
langue:
Espagnol
Texte intégral:
Rev. méd. Chile
Thème du journal:
Médicament
Année:
2004
Type:
Article
/
descriptif de projet
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