Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia

ABSTRACT: The present study was undertaken to examine the pattern of inheritance of Ceft Lip/Palate (CLP) in pedigrees ascertained from Antioquia, Colombia. Ninety-five extended and multigenerational pedigrees, constituted by 201 nuclear components and 1.136 records were analyzed. Ten hypothetical m...

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Autores:
Moreno Uribe, Lina María
Lidral, Andrew
Fonseca González, Idalyd
Arcos Burgos, Oscar Mauricio
Tipo de recurso:
Article of investigation
Fecha de publicación:
2001
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/20918
Acceso en línea:
http://hdl.handle.net/10495/20918
https://revistas.udea.edu.co/index.php/actbio/article/view/329618
Palabra clave:
Cleft Palate
Fisura del Paladar
Genética
Genetics
Anomalías de la Boca
Mouth Abnormalities
Labio
Lip
Grupos Étnicos
Ethnic Groups
Genética Humana
Human Genetics
Antioquia (Colombia)
Malformaciones
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-sa/2.5/co/
id UDEA2_ec735866514f2e3a7f2455739773e84d
oai_identifier_str oai:bibliotecadigital.udea.edu.co:10495/20918
network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia
dc.title.alternative.spa.fl_str_mv Análisis de segregación compleja de labio/paladar hendido no sindrómico en Antioquia, Colombia
title Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia
spellingShingle Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia
Cleft Palate
Fisura del Paladar
Genética
Genetics
Anomalías de la Boca
Mouth Abnormalities
Labio
Lip
Grupos Étnicos
Ethnic Groups
Genética Humana
Human Genetics
Antioquia (Colombia)
Malformaciones
title_short Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia
title_full Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia
title_fullStr Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia
title_full_unstemmed Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia
title_sort Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia
dc.creator.fl_str_mv Moreno Uribe, Lina María
Lidral, Andrew
Fonseca González, Idalyd
Arcos Burgos, Oscar Mauricio
dc.contributor.author.none.fl_str_mv Moreno Uribe, Lina María
Lidral, Andrew
Fonseca González, Idalyd
Arcos Burgos, Oscar Mauricio
dc.subject.decs.none.fl_str_mv Cleft Palate
Fisura del Paladar
Genética
Genetics
Anomalías de la Boca
Mouth Abnormalities
Labio
Lip
Grupos Étnicos
Ethnic Groups
Genética Humana
Human Genetics
topic Cleft Palate
Fisura del Paladar
Genética
Genetics
Anomalías de la Boca
Mouth Abnormalities
Labio
Lip
Grupos Étnicos
Ethnic Groups
Genética Humana
Human Genetics
Antioquia (Colombia)
Malformaciones
dc.subject.lemb.none.fl_str_mv Antioquia (Colombia)
dc.subject.proposal.spa.fl_str_mv Malformaciones
description ABSTRACT: The present study was undertaken to examine the pattern of inheritance of Ceft Lip/Palate (CLP) in pedigrees ascertained from Antioquia, Colombia. Ninety-five extended and multigenerational pedigrees, constituted by 201 nuclear components and 1.136 records were analyzed. Ten hypothetical models were contrasted using likelihood ratio tests. The hypotheses of no familial transmission, multifactorial component compared against that of the existence of a major gene only, the existence of a recessive major gene, that of non major component in the mixed model and that of the non transmission of major effect (t1 = 12 = (3) were rejected. In contrast. hypotheses postulating a major locus (dominant, codominant) and that of no polygenic component in the mixed model could not be rejected. Iteration of the parameter 12 was the most parsimonious. Thus far, the most parsimonious model is that of a major gene (dominant-codominant) without multifactorial effects but, taking into account, that the (2 iteration in the major gene model with unrestricted d. result in a significantly improving of the model likelihood, oligogenic interactions can not be underrated.
publishDate 2001
dc.date.issued.none.fl_str_mv 2001
dc.date.accessioned.none.fl_str_mv 2021-07-16T16:33:44Z
dc.date.available.none.fl_str_mv 2021-07-16T16:33:44Z
dc.type.spa.fl_str_mv info:eu-repo/semantics/article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
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dc.type.local.spa.fl_str_mv Artículo de investigación
format http://purl.org/coar/resource_type/c_2df8fbb1
status_str publishedVersion
dc.identifier.citation.spa.fl_str_mv Moreno, L., Lidral, A., Fonseca, I., Valencia C., & Arcos, M. (2001). Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia. Actualidades Biológicas, 23(74), 49-56. https://revistas.udea.edu.co/index.php/actbio/article/view/329618
dc.identifier.issn.none.fl_str_mv 0304-3584
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/20918
dc.identifier.eissn.none.fl_str_mv 2145-7166
dc.identifier.url.spa.fl_str_mv https://revistas.udea.edu.co/index.php/actbio/article/view/329618
identifier_str_mv Moreno, L., Lidral, A., Fonseca, I., Valencia C., & Arcos, M. (2001). Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia. Actualidades Biológicas, 23(74), 49-56. https://revistas.udea.edu.co/index.php/actbio/article/view/329618
0304-3584
2145-7166
url http://hdl.handle.net/10495/20918
https://revistas.udea.edu.co/index.php/actbio/article/view/329618
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Actual. Biol.
dc.rights.spa.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-sa/2.5/co/
dc.rights.accessrights.spa.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.creativecommons.spa.fl_str_mv https://creativecommons.org/licenses/by-nc-sa/4.0/
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/2.5/co/
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dc.format.extent.spa.fl_str_mv 7
dc.format.mimetype.spa.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Universidad de Antioquia, Facultad de Ciencias Exactas y Naturales, Instituto de Biología
dc.publisher.group.spa.fl_str_mv Genética Regeneración y Cáncer
dc.publisher.place.spa.fl_str_mv Medellín, Colombia
institution Universidad de Antioquia
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repository.name.fl_str_mv Repositorio Institucional Universidad de Antioquia
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spelling Moreno Uribe, Lina MaríaLidral, AndrewFonseca González, IdalydArcos Burgos, Oscar Mauricio2021-07-16T16:33:44Z2021-07-16T16:33:44Z2001Moreno, L., Lidral, A., Fonseca, I., Valencia C., & Arcos, M. (2001). Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, Colombia. Actualidades Biológicas, 23(74), 49-56. https://revistas.udea.edu.co/index.php/actbio/article/view/3296180304-3584http://hdl.handle.net/10495/209182145-7166https://revistas.udea.edu.co/index.php/actbio/article/view/329618ABSTRACT: The present study was undertaken to examine the pattern of inheritance of Ceft Lip/Palate (CLP) in pedigrees ascertained from Antioquia, Colombia. Ninety-five extended and multigenerational pedigrees, constituted by 201 nuclear components and 1.136 records were analyzed. Ten hypothetical models were contrasted using likelihood ratio tests. The hypotheses of no familial transmission, multifactorial component compared against that of the existence of a major gene only, the existence of a recessive major gene, that of non major component in the mixed model and that of the non transmission of major effect (t1 = 12 = (3) were rejected. In contrast. hypotheses postulating a major locus (dominant, codominant) and that of no polygenic component in the mixed model could not be rejected. Iteration of the parameter 12 was the most parsimonious. Thus far, the most parsimonious model is that of a major gene (dominant-codominant) without multifactorial effects but, taking into account, that the (2 iteration in the major gene model with unrestricted d. result in a significantly improving of the model likelihood, oligogenic interactions can not be underrated.RESUMEN: El presente estudio fue realizado para evaluar el patrón hereditario de Labio/Paladar Hendido (CLP) en genealogías estudiadas en el departamento de Antioquia, Colombia. Se analizaron 95 genealogías multigeneracionales extendidas. constituidas por 201 componentes nucleares y 1.136 individuos. Se contrastaron diez modelos hipotéticos mediante el test de verosimilitud. Las hipótesis de no-transmisión familiar y el componente multifactorial, comparadas contra la hipótesis de existencia de un gen mayor y de un gen mayor recesivo, y la no existencia del componente mayor en el modelo mixto y no transmisión de efectos mayores (11-12-13), fueron refutadas. En contraste, no pudieron refutarse las hipótesis que postulan un locus mayor (dominante, codominante) y un componente no poligénico en el modelo mixto. El modelo más parsimonioso fue el de gen mayor (dominante-codominante) sin efectos multifactoriales tomando en cuenta la iteración del parámetro 12 con d no restringido, lo que resultó en un mejoramiento significativo del valor de verosimilitud en este modelo. Las interacciones oligogénicas no pueden ser subestimadas.COL00067697application/pdfengUniversidad de Antioquia, Facultad de Ciencias Exactas y Naturales, Instituto de BiologíaGenética Regeneración y CáncerMedellín, Colombiainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTArtículo de investigaciónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-sa/4.0/Complex segregation analysis of nonsyndromic Cleft Lip/Palate in Antioquia, ColombiaAnálisis de segregación compleja de labio/paladar hendido no sindrómico en Antioquia, ColombiaCleft PalateFisura del PaladarGenéticaGeneticsAnomalías de la BocaMouth AbnormalitiesLabioLipGrupos ÉtnicosEthnic GroupsGenética HumanaHuman GeneticsAntioquia (Colombia)MalformacionesActual. Biol.Actualidades Biológicas49562374CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-81051http://bibliotecadigital.udea.edu.co/bitstream/10495/20918/2/license_rdfe2060682c9c70d4d30c83c51448f4eedMD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/20918/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD53ORIGINALFonsecaIdalyd_2001_AnalysisNonsyndromicCleftLip.pdfFonsecaIdalyd_2001_AnalysisNonsyndromicCleftLip.pdfArtículo de investigaciónapplication/pdf294127http://bibliotecadigital.udea.edu.co/bitstream/10495/20918/1/FonsecaIdalyd_2001_AnalysisNonsyndromicCleftLip.pdf725f99b99beb8f318f18d470a21b1151MD5110495/20918oai:bibliotecadigital.udea.edu.co:10495/209182021-07-16 11:33:46.484Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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