Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena

Background: Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with the characteristics of a complex genetic trait. Based on experimental evidences as well as on association and linkage studies candidate genes TGFA, RARA and BCL3 have been postulated as being involved in the genetic...

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Autores principales:	Suazo S,José, Santos M,Luis, Silva A,Viviana, Jara S,Lilian, Palomino Z,Hernán, Blanco C,Rafael
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2005
Materias:	Cleft palate Linkage disequilibrium Transforming growth factor alpha
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000900008
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spelling	oai:scielo:S0034-988720050009000082005-11-09Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilenaSuazo S,JoséSantos M,LuisSilva A,VivianaJara S,LilianPalomino Z,HernánBlanco C,Rafael Cleft palate Linkage disequilibrium Transforming growth factor alpha Background: Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with the characteristics of a complex genetic trait. Based on experimental evidences as well as on association and linkage studies candidate genes TGFA, RARA and BCL3 have been postulated as being involved in the genetic etiology of this pathology. Aim: To test the possible association due to linkage disequilibrium between microsatellite markers located at less than 1cM from the three candidate genes and nonsyndromic cleft lip/palate using the case-parents trio design. Patients and Methods: The sample consisted of 58 case-parents trios. Two microsatellite markers, flanking each one of the candidate genes were analyzed by means of the polymerase chain reaction (PCR) with fluorescent labeled microsatellite markers. Electrophoresis of the PCR products was performed on a laser-fluorescent automatic DNA sequencer. Nonparametric ETDT was used to analyze the genotype data. Results: Significant linkage disequilibrium was detected between D2S443 (TGFA) and NSCLP. Significance was almost reached between D17S800 (RARA) and NSCLP. Alleles 239bp (D2S443) and 172bp (D17S800) showed significant preferential transmission from heterozygous parents to affected offspring. In the case of BCL3 both markers showed no significant results. Conclusions: The results of the present study do not show clear evidence that TGFA or RARA could be involved in the genetic etiology of NSCLP. Even though the importance of retinoic acid in the development of the embryo is well documented the results obtained for RARA are difficult to analyze. In relation to the possible role of BCL3 in NSCLP, recent information postulates that other genes located in the same chromosome region could be involved in NSCLP (Rev Méd Chile 2005; 133: 1051-58).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.133 n.9 20052005-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000900008es10.4067/S0034-98872005000900008
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cleft palate Linkage disequilibrium Transforming growth factor alpha
spellingShingle	Cleft palate Linkage disequilibrium Transforming growth factor alpha Suazo S,José Santos M,Luis Silva A,Viviana Jara S,Lilian Palomino Z,Hernán Blanco C,Rafael Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena
description	Background: Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with the characteristics of a complex genetic trait. Based on experimental evidences as well as on association and linkage studies candidate genes TGFA, RARA and BCL3 have been postulated as being involved in the genetic etiology of this pathology. Aim: To test the possible association due to linkage disequilibrium between microsatellite markers located at less than 1cM from the three candidate genes and nonsyndromic cleft lip/palate using the case-parents trio design. Patients and Methods: The sample consisted of 58 case-parents trios. Two microsatellite markers, flanking each one of the candidate genes were analyzed by means of the polymerase chain reaction (PCR) with fluorescent labeled microsatellite markers. Electrophoresis of the PCR products was performed on a laser-fluorescent automatic DNA sequencer. Nonparametric ETDT was used to analyze the genotype data. Results: Significant linkage disequilibrium was detected between D2S443 (TGFA) and NSCLP. Significance was almost reached between D17S800 (RARA) and NSCLP. Alleles 239bp (D2S443) and 172bp (D17S800) showed significant preferential transmission from heterozygous parents to affected offspring. In the case of BCL3 both markers showed no significant results. Conclusions: The results of the present study do not show clear evidence that TGFA or RARA could be involved in the genetic etiology of NSCLP. Even though the importance of retinoic acid in the development of the embryo is well documented the results obtained for RARA are difficult to analyze. In relation to the possible role of BCL3 in NSCLP, recent information postulates that other genes located in the same chromosome region could be involved in NSCLP (Rev Méd Chile 2005; 133: 1051-58).
author	Suazo S,José Santos M,Luis Silva A,Viviana Jara S,Lilian Palomino Z,Hernán Blanco C,Rafael
author_facet	Suazo S,José Santos M,Luis Silva A,Viviana Jara S,Lilian Palomino Z,Hernán Blanco C,Rafael
author_sort	Suazo S,José
title	Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena
title_short	Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena
title_full	Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena
title_fullStr	Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena
title_full_unstemmed	Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena
title_sort	estudio de asociación por desequilibrio de ligamiento entre los genes tgfa, rara, y bcl3 y fisura labiopalatina no sindrómica (flpns) en la población chilena
publisher	Sociedad Médica de Santiago
publishDate	2005
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000900008
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Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena

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