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...

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Autores principales:	Vieira,Alexandre R, Castillo Taucher,Silvia, Aravena,Teresa, Astete,Carmen, Sanz,Patricia, Tastets,María Eugenia, Monasterio,Luis, Murray,Jeffrey C
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	Abnormalities, multiple Cleft lip Genome library MSX1 gene Mutation, missense
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000700005
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spelling	oai:scielo:S0034-988720040007000052004-12-13Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras oralesVieira,Alexandre RCastillo Taucher,SilviaAravena,TeresaAstete,CarmenSanz,PatriciaTastets,María EugeniaMonasterio,LuisMurray,Jeffrey C Abnormalities, multiple Cleft lip Genome library MSX1 gene Mutation, missense 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)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.7 20042004-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000700005es10.4067/S0034-98872004000700005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Abnormalities, multiple Cleft lip Genome library MSX1 gene Mutation, missense
spellingShingle	Abnormalities, multiple Cleft lip Genome library MSX1 gene Mutation, missense Vieira,Alexandre R Castillo Taucher,Silvia Aravena,Teresa Astete,Carmen Sanz,Patricia Tastets,María Eugenia Monasterio,Luis Murray,Jeffrey C Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
description	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)
author	Vieira,Alexandre R Castillo Taucher,Silvia Aravena,Teresa Astete,Carmen Sanz,Patricia Tastets,María Eugenia Monasterio,Luis Murray,Jeffrey C
author_facet	Vieira,Alexandre R Castillo Taucher,Silvia Aravena,Teresa Astete,Carmen Sanz,Patricia Tastets,María Eugenia Monasterio,Luis Murray,Jeffrey C
author_sort	Vieira,Alexandre R
title	Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
title_short	Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
title_full	Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
title_fullStr	Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
title_full_unstemmed	Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
title_sort	análisis mutacional del gen homeobox de segmento muscular 1 (msx1) en chilenos con fisuras orales
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000700005
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Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales

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