La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena

Background: Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate. Aim: To study the linkage b...

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Autores principales:	Blanco C,Rafael, Jara S,Lilian, Villaseca G,Cecilia, Palomino Z,Hernán, Carreño Z,Hernán
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 1998
Materias:	Gene expression Genetics, medical Cleft lip Cleft palate
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98871998000700005
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spelling	oai:scielo:S0034-988719980007000051999-06-15La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilenaBlanco C,RafaelJara S,LilianVillaseca G,CeciliaPalomino Z,HernánCarreño Z,Hernán Gene expression Genetics, medical Cleft lip Cleft palate Background: Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate. Aim: To study the linkage between non syndromic cleft palate and variations of MSX1 gene. Patients and methods: Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 127 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR. Results: A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1. Conclusions: These results support the hypothesis of a genetic heterogeneity in the etiology of non syndromic cleft lip palate.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.126 n.7 19981998-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98871998000700005es10.4067/S0034-98871998000700005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Gene expression Genetics, medical Cleft lip Cleft palate
spellingShingle	Gene expression Genetics, medical Cleft lip Cleft palate Blanco C,Rafael Jara S,Lilian Villaseca G,Cecilia Palomino Z,Hernán Carreño Z,Hernán La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena
description	Background: Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate. Aim: To study the linkage between non syndromic cleft palate and variations of MSX1 gene. Patients and methods: Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 127 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR. Results: A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1. Conclusions: These results support the hypothesis of a genetic heterogeneity in the etiology of non syndromic cleft lip palate.
author	Blanco C,Rafael Jara S,Lilian Villaseca G,Cecilia Palomino Z,Hernán Carreño Z,Hernán
author_facet	Blanco C,Rafael Jara S,Lilian Villaseca G,Cecilia Palomino Z,Hernán Carreño Z,Hernán
author_sort	Blanco C,Rafael
title	La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena
title_short	La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena
title_full	La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena
title_fullStr	La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena
title_full_unstemmed	La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena
title_sort	la variación genética de msx1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena
publisher	Sociedad Médica de Santiago
publishDate	1998
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98871998000700005
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La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena

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