Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q

Background: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial defect. Association studies have suggested that a clefting locus is located on chromosome 4q at or near two microsatellite markers D4S175 and D4S192. Aim: To test the hypothesis on the possible presence...

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Autores principales:	Paredes A,Mónica, Carreño Z,Hernán, Solá A,José Antonio, Segú C,Jorge, Palomino Z,Hernán, Blanco C,Rafael
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 1999
Materias:	Cleft palate Cleft lip Chromosoma, 4q Microsatellite repeats
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98871999001200003
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spelling	oai:scielo:S0034-988719990012000032000-04-05Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4qParedes A,MónicaCarreño Z,HernánSolá A,José AntonioSegú C,JorgePalomino Z,HernánBlanco C,Rafael Cleft palate Cleft lip Chromosoma, 4q Microsatellite repeats Background: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial defect. Association studies have suggested that a clefting locus is located on chromosome 4q at or near two microsatellite markers D4S175 and D4S192. Aim: To test the hypothesis on the possible presence of a clefting locus on chromosome 4q. Material and methods: We carried out an association study on a sample of unrelated NSCLP patients, of their unaffected relatives and in controls. Both probands and relatives were further analyzed depending if they originated from simplex or multiplex families. DNA was analyzed with two PCR markers close to the putative NSCLP locus, dinucleotide repeats D4S175 and D4S192. PCR products were resolved by PAGE and visualized by silver staining. Statistical analysis was performed by means of <FONT FACE=Symbol>c</FONT>2 log ratio. Results: Significant differences between NSCLP and controls were observed when comparing the allele frequency distribution of D4S192 both in the total sample as well as in NSCLP-multiplex and simplex cases. No significant differences for D4S175 were observed in any of the comparisons. Unaffected relatives showed significant differences with controls both for D4S175 and D4S192. Conclusions: Our results support the hypothesis that a NSCLP locus maps on chromosome 4q close to the microsatellite marker D4S192. No differences were observed between NSCLP multiplex and simplex cases versus controls, implying that they do not represent different etiologic entities. The results of the present and previous studies in the same group of patients support the hypothesis that several major interacting genes participate in the etiology of NSCLP.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.127 n.12 19991999-12-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98871999001200003es10.4067/S0034-98871999001200003
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cleft palate Cleft lip Chromosoma, 4q Microsatellite repeats
spellingShingle	Cleft palate Cleft lip Chromosoma, 4q Microsatellite repeats Paredes A,Mónica Carreño Z,Hernán Solá A,José Antonio Segú C,Jorge Palomino Z,Hernán Blanco C,Rafael Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q
description	Background: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial defect. Association studies have suggested that a clefting locus is located on chromosome 4q at or near two microsatellite markers D4S175 and D4S192. Aim: To test the hypothesis on the possible presence of a clefting locus on chromosome 4q. Material and methods: We carried out an association study on a sample of unrelated NSCLP patients, of their unaffected relatives and in controls. Both probands and relatives were further analyzed depending if they originated from simplex or multiplex families. DNA was analyzed with two PCR markers close to the putative NSCLP locus, dinucleotide repeats D4S175 and D4S192. PCR products were resolved by PAGE and visualized by silver staining. Statistical analysis was performed by means of <FONT FACE=Symbol>c</FONT>2 log ratio. Results: Significant differences between NSCLP and controls were observed when comparing the allele frequency distribution of D4S192 both in the total sample as well as in NSCLP-multiplex and simplex cases. No significant differences for D4S175 were observed in any of the comparisons. Unaffected relatives showed significant differences with controls both for D4S175 and D4S192. Conclusions: Our results support the hypothesis that a NSCLP locus maps on chromosome 4q close to the microsatellite marker D4S192. No differences were observed between NSCLP multiplex and simplex cases versus controls, implying that they do not represent different etiologic entities. The results of the present and previous studies in the same group of patients support the hypothesis that several major interacting genes participate in the etiology of NSCLP.
author	Paredes A,Mónica Carreño Z,Hernán Solá A,José Antonio Segú C,Jorge Palomino Z,Hernán Blanco C,Rafael
author_facet	Paredes A,Mónica Carreño Z,Hernán Solá A,José Antonio Segú C,Jorge Palomino Z,Hernán Blanco C,Rafael
author_sort	Paredes A,Mónica
title	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q
title_short	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q
title_full	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q
title_fullStr	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q
title_full_unstemmed	Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q
title_sort	asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q
publisher	Sociedad Médica de Santiago
publishDate	1999
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98871999001200003
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Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 4q

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