Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q

Background: In the search of the major genes responsible for the genetic etiology of Nonsyndromic Cleft Lip and Palate (NSCLP), an association study between this malformation and four molecular markers, F13A1 and EDN1 (6p), D17S579 (17q) and BCL3 (19q), was done. Aim: To determine, in a Chilean popu...

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Autores principales:	Carreño Z,Hernán, Suazo S,José, Paredes A,Mónica, Solá A,José, Valenzuela B,Jimena, Blanco C,Rafael
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2002
Materias:	Chromosomes, human Cleft lip Cleft palate Genetic markers
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000100005
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spelling	oai:scielo:S0034-988720020001000052002-04-09Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19qCarreño Z,HernánSuazo S,JoséParedes A,MónicaSolá A,JoséValenzuela B,JimenaBlanco C,Rafael Chromosomes, human Cleft lip Cleft palate Genetic markers Background: In the search of the major genes responsible for the genetic etiology of Nonsyndromic Cleft Lip and Palate (NSCLP), an association study between this malformation and four molecular markers, F13A1 and EDN1 (6p), D17S579 (17q) and BCL3 (19q), was done. Aim: To determine, in a Chilean population, the presence of NSCLP susceptibility regions, as proposed for Caucasian populations in the 6p, 17q and 19q chromosomal regions. Material and Methods: A sample of unrelated NSCLP patients, that belonged to Simplex (Sx) and Multiplex (Mx) families, was analyzed. Blood donors were used as a control group (Co). The DNA of the four markers was amplified by means of PCR, their products analyzed by PAGE denaturants and visualized by silver staining. Statistical analysis was performed using chi2 log ratio. Results: Allele frequency distribution of D17S579 was significantly different in all patients with NSCLP and their subgroups, when compared to control subjects. Significant differences in EDN1 frecuency were observed between the total groups of NSCLP patients and those pertaining to the Mx subgroup, when compared to controls. Differences in F13A1 distribution were only observed between NSCLP-Mx patients and controls. There was a slight difference in BCL3 distribution, between the total sample of NSCLP patients and controls. Conclusions: Our results support the hypothesis of the existence of cleft susceptibility regions in 6p and 17q. The small significance of BCL3, suggests that ethnicity can influence the interactions between involved genes (Rev Méd Chile 2002; 130: 35-44)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.130 n.1 20022002-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000100005es10.4067/S0034-98872002000100005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Chromosomes, human Cleft lip Cleft palate Genetic markers
spellingShingle	Chromosomes, human Cleft lip Cleft palate Genetic markers Carreño Z,Hernán Suazo S,José Paredes A,Mónica Solá A,José Valenzuela B,Jimena Blanco C,Rafael Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q
description	Background: In the search of the major genes responsible for the genetic etiology of Nonsyndromic Cleft Lip and Palate (NSCLP), an association study between this malformation and four molecular markers, F13A1 and EDN1 (6p), D17S579 (17q) and BCL3 (19q), was done. Aim: To determine, in a Chilean population, the presence of NSCLP susceptibility regions, as proposed for Caucasian populations in the 6p, 17q and 19q chromosomal regions. Material and Methods: A sample of unrelated NSCLP patients, that belonged to Simplex (Sx) and Multiplex (Mx) families, was analyzed. Blood donors were used as a control group (Co). The DNA of the four markers was amplified by means of PCR, their products analyzed by PAGE denaturants and visualized by silver staining. Statistical analysis was performed using chi2 log ratio. Results: Allele frequency distribution of D17S579 was significantly different in all patients with NSCLP and their subgroups, when compared to control subjects. Significant differences in EDN1 frecuency were observed between the total groups of NSCLP patients and those pertaining to the Mx subgroup, when compared to controls. Differences in F13A1 distribution were only observed between NSCLP-Mx patients and controls. There was a slight difference in BCL3 distribution, between the total sample of NSCLP patients and controls. Conclusions: Our results support the hypothesis of the existence of cleft susceptibility regions in 6p and 17q. The small significance of BCL3, suggests that ethnicity can influence the interactions between involved genes (Rev Méd Chile 2002; 130: 35-44)
author	Carreño Z,Hernán Suazo S,José Paredes A,Mónica Solá A,José Valenzuela B,Jimena Blanco C,Rafael
author_facet	Carreño Z,Hernán Suazo S,José Paredes A,Mónica Solá A,José Valenzuela B,Jimena Blanco C,Rafael
author_sort	Carreño Z,Hernán
title	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q
title_short	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q
title_full	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q
title_fullStr	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q
title_full_unstemmed	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q
title_sort	asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q
publisher	Sociedad Médica de Santiago
publishDate	2002
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000100005
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Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q

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