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
em Es
| LILACS
| ID: lil-366581
Biblioteca responsável:
CL12.1
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.
Texto completo:
1
Índice:
LILACS
Assunto principal:
Genes Homeobox
/
Fenda Labial
/
Fissura Palatina
Limite:
Humans
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2004
Tipo de documento:
Article
/
Project document