Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1590/S1415-47572006000300005 http://hdl.handle.net/11449/69093 |
Resumo: | Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/ P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. © 2006 Sociedade Brasileira de Genética. |
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Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrenceCleft lipCleft palateOral clefts5,10 methylenetetrahydrofolate reductase (FADH2)DNAtranscription factor MSX1transforming growth factor beta3adultallelechildcleft lipcleft palateDNA determinationfamily assessmentfemalegene frequencygene linkage disequilibriumgene mappinggenetic associationgenetic polymorphismgenetic riskgenotypeheredityhumanmajor clinical studymalepathophysiologyrisk assessmentsex differenceCleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/ P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. © 2006 Sociedade Brasileira de Genética.Universidade Estadual Paulista - UNESP, Distrito de Rubiao Junior s/n, 18618-000 Botucatu SPHospital de Reabilitatiao de Anomalias Craniofaciais Universidade de São Paulo - USP, Bauru, SPCenter for Craniofacial and Dental Genetics University of Pittsburgh, Pittsburgh, PAUniversidade Estadual Paulista - UNESP, Distrito de Rubiao Junior s/n, 18618-000 Botucatu SPUniversidade Estadual Paulista (Unesp)Universidade de São Paulo (USP)University of Pittsburghda Silva, Aline Loureno̧ [UNESP]Ribeiro, Lucilene Arilho [UNESP]Cooper, Margaret E.Marazita, Mary L.Moretti-Ferreira, Danilo [UNESP]2014-05-27T11:21:58Z2014-05-27T11:21:58Z2006-09-20info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article439-442application/pdfhttp://dx.doi.org/10.1590/S1415-47572006000300005Genetics and Molecular Biology, v. 29, n. 3, p. 439-442, 2006.1415-47571678-4685http://hdl.handle.net/11449/6909310.1590/S1415-47572006000300005S1415-47572006000300005WOS:0002403285000052-s2.0-337486500832-s2.0-33748650083.pdf0000-0002-9256-7623Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics and Molecular Biology1.4930,638info:eu-repo/semantics/openAccess2023-12-12T06:18:27Zoai:repositorio.unesp.br:11449/69093Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462023-12-12T06:18:27Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence |
title |
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence |
spellingShingle |
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence da Silva, Aline Loureno̧ [UNESP] Cleft lip Cleft palate Oral clefts 5,10 methylenetetrahydrofolate reductase (FADH2) DNA transcription factor MSX1 transforming growth factor beta3 adult allele child cleft lip cleft palate DNA determination family assessment female gene frequency gene linkage disequilibrium gene mapping genetic association genetic polymorphism genetic risk genotype heredity human major clinical study male pathophysiology risk assessment sex difference |
title_short |
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence |
title_full |
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence |
title_fullStr |
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence |
title_full_unstemmed |
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence |
title_sort |
Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence |
author |
da Silva, Aline Loureno̧ [UNESP] |
author_facet |
da Silva, Aline Loureno̧ [UNESP] Ribeiro, Lucilene Arilho [UNESP] Cooper, Margaret E. Marazita, Mary L. Moretti-Ferreira, Danilo [UNESP] |
author_role |
author |
author2 |
Ribeiro, Lucilene Arilho [UNESP] Cooper, Margaret E. Marazita, Mary L. Moretti-Ferreira, Danilo [UNESP] |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) Universidade de São Paulo (USP) University of Pittsburgh |
dc.contributor.author.fl_str_mv |
da Silva, Aline Loureno̧ [UNESP] Ribeiro, Lucilene Arilho [UNESP] Cooper, Margaret E. Marazita, Mary L. Moretti-Ferreira, Danilo [UNESP] |
dc.subject.por.fl_str_mv |
Cleft lip Cleft palate Oral clefts 5,10 methylenetetrahydrofolate reductase (FADH2) DNA transcription factor MSX1 transforming growth factor beta3 adult allele child cleft lip cleft palate DNA determination family assessment female gene frequency gene linkage disequilibrium gene mapping genetic association genetic polymorphism genetic risk genotype heredity human major clinical study male pathophysiology risk assessment sex difference |
topic |
Cleft lip Cleft palate Oral clefts 5,10 methylenetetrahydrofolate reductase (FADH2) DNA transcription factor MSX1 transforming growth factor beta3 adult allele child cleft lip cleft palate DNA determination family assessment female gene frequency gene linkage disequilibrium gene mapping genetic association genetic polymorphism genetic risk genotype heredity human major clinical study male pathophysiology risk assessment sex difference |
description |
Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/ P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. © 2006 Sociedade Brasileira de Genética. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-09-20 2014-05-27T11:21:58Z 2014-05-27T11:21:58Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1590/S1415-47572006000300005 Genetics and Molecular Biology, v. 29, n. 3, p. 439-442, 2006. 1415-4757 1678-4685 http://hdl.handle.net/11449/69093 10.1590/S1415-47572006000300005 S1415-47572006000300005 WOS:000240328500005 2-s2.0-33748650083 2-s2.0-33748650083.pdf 0000-0002-9256-7623 |
url |
http://dx.doi.org/10.1590/S1415-47572006000300005 http://hdl.handle.net/11449/69093 |
identifier_str_mv |
Genetics and Molecular Biology, v. 29, n. 3, p. 439-442, 2006. 1415-4757 1678-4685 10.1590/S1415-47572006000300005 S1415-47572006000300005 WOS:000240328500005 2-s2.0-33748650083 2-s2.0-33748650083.pdf 0000-0002-9256-7623 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Genetics and Molecular Biology 1.493 0,638 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
439-442 application/pdf |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
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1803649963887951872 |