Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia

ABSTRACT: The present study was undertaken to examine the pattern of inheritance of cleft lip and palate (CLP) in pedigrees ascertained from localities belonging to Cundiboyacense altiplano, Colombia. This population has long been known to be the result of the admixture between Amerindian/Spaniard c...

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Autores:
Fonseca González, Idalyd
Rojas, Nancy
Isaza de Lourido, Carolina
Arcos Burgos, Oscar Mauricio
Tipo de recurso:
Article of investigation
Fecha de publicación:
2000
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/20926
Acceso en línea:
http://hdl.handle.net/10495/20926
https://revistas.udea.edu.co/index.php/actbio/article/view/329727
Palabra clave:
Cleft Palate
Fisura del Paladar
Genetics
Genética
Segregación Cromosómica
Chromosome Segregation
Grupos Étnicos
Ethnic Groups
Antioquia (Colombia)
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-sa/2.5/co/
id UDEA2_db3f806a1e6b1e4e5863380150ec5e28
oai_identifier_str oai:bibliotecadigital.udea.edu.co:10495/20926
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 amerindian/caucasian admixture populations from Colombia
dc.title.alternative.spa.fl_str_mv Análisis de segregación compleja de labio/paladar hendido no sindrómico en una población mixta amerindia/caucasoide de Colombia
title Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia
spellingShingle Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia
Cleft Palate
Fisura del Paladar
Genetics
Genética
Segregación Cromosómica
Chromosome Segregation
Grupos Étnicos
Ethnic Groups
Antioquia (Colombia)
title_short Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia
title_full Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia
title_fullStr Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia
title_full_unstemmed Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia
title_sort Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia
dc.creator.fl_str_mv Fonseca González, Idalyd
Rojas, Nancy
Isaza de Lourido, Carolina
Arcos Burgos, Oscar Mauricio
dc.contributor.author.none.fl_str_mv Fonseca González, Idalyd
Rojas, Nancy
Isaza de Lourido, Carolina
Arcos Burgos, Oscar Mauricio
dc.contributor.corporatename.spa.fl_str_mv Operación Smile Colombia
dc.subject.decs.none.fl_str_mv Cleft Palate
Fisura del Paladar
Genetics
Genética
Segregación Cromosómica
Chromosome Segregation
Grupos Étnicos
Ethnic Groups
topic Cleft Palate
Fisura del Paladar
Genetics
Genética
Segregación Cromosómica
Chromosome Segregation
Grupos Étnicos
Ethnic Groups
Antioquia (Colombia)
dc.subject.lemb.none.fl_str_mv Antioquia (Colombia)
description ABSTRACT: The present study was undertaken to examine the pattern of inheritance of cleft lip and palate (CLP) in pedigrees ascertained from localities belonging to Cundiboyacense altiplano, Colombia. This population has long been known to be the result of the admixture between Amerindian/Spaniard communities five centuries ago. Ninety-eight extended and multigenerational pedigrees, constituted by 125 nuclear components and 651 records were analyzed. Nine 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= t3) 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. The major gene model without restrictions in d was the most parsimonious. Thus far, the most parsimonious model is that of a major gene (dominant-codominant) without multifactorial effects. Thus, it must be emphasized that, at least in the Colombian communities, environmental components in predisposing to CLP, as has been pointed out in those hypothesis involving fungicides and some kind of avitaminosis, must be discarded and the genetic mendelian factors must be the focus of research.
publishDate 2000
dc.date.issued.none.fl_str_mv 2000
dc.date.accessioned.none.fl_str_mv 2021-07-16T20:20:00Z
dc.date.available.none.fl_str_mv 2021-07-16T20:20:00Z
dc.type.spa.fl_str_mv info:eu-repo/semantics/article
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dc.type.local.spa.fl_str_mv Artículo de investigación
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dc.identifier.citation.spa.fl_str_mv Fonseca, I., Rojas, N., Isaza, C., Grupo Operación Smile Colombia., & Arcos,M. (2000). Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia. Actualidades Biológicas, 22(72), 55-63. https://revistas.udea.edu.co/index.php/actbio/article/view/329727
dc.identifier.issn.none.fl_str_mv 0304-3584
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/20926
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/329727
identifier_str_mv Fonseca, I., Rojas, N., Isaza, C., Grupo Operación Smile Colombia., & Arcos,M. (2000). Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia. Actualidades Biológicas, 22(72), 55-63. https://revistas.udea.edu.co/index.php/actbio/article/view/329727
0304-3584
2145-7166
url http://hdl.handle.net/10495/20926
https://revistas.udea.edu.co/index.php/actbio/article/view/329727
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/
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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 9
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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 Fonseca González, IdalydRojas, NancyIsaza de Lourido, CarolinaArcos Burgos, Oscar MauricioOperación Smile Colombia2021-07-16T20:20:00Z2021-07-16T20:20:00Z2000Fonseca, I., Rojas, N., Isaza, C., Grupo Operación Smile Colombia., & Arcos,M. (2000). Complex segregation analysis of nonsyndromic cleft lip/palate in amerindian/caucasian admixture populations from Colombia. Actualidades Biológicas, 22(72), 55-63. https://revistas.udea.edu.co/index.php/actbio/article/view/3297270304-3584http://hdl.handle.net/10495/209262145-7166https://revistas.udea.edu.co/index.php/actbio/article/view/329727ABSTRACT: The present study was undertaken to examine the pattern of inheritance of cleft lip and palate (CLP) in pedigrees ascertained from localities belonging to Cundiboyacense altiplano, Colombia. This population has long been known to be the result of the admixture between Amerindian/Spaniard communities five centuries ago. Ninety-eight extended and multigenerational pedigrees, constituted by 125 nuclear components and 651 records were analyzed. Nine 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= t3) 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. The major gene model without restrictions in d was the most parsimonious. Thus far, the most parsimonious model is that of a major gene (dominant-codominant) without multifactorial effects. Thus, it must be emphasized that, at least in the Colombian communities, environmental components in predisposing to CLP, as has been pointed out in those hypothesis involving fungicides and some kind of avitaminosis, must be discarded and the genetic mendelian factors must be the focus of research.RESUMEN: El presente estudio fue realizado para evaluar el patrón hereditario de labio/paladar hendido (LPH) en genealogías analizadas en localidades pertenecientes al altiplano cundiboyacense colombiano. Esta población se originó hace cinco siglos como resultado de la mezcla entre las comunidades Amerindia e Hispánica. Se analizaron 98 genealogías multigeneracionales extendidas, constituidas por 125 componentes nucleares y 651 individuos. Se contrastaron nueve 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 (t1=12=t3), fueron refutadas. En contraste, no pudieron refutarse las hipótesis postulando un locus mayor (dominante, codominante) y un componente no poligénico en el modelo mixto. El modelo de gen mayor (dominante, codominante) sin efectos multifactoriales fue el más parsimonioso. En conclusión, debe enfatizarse que, por lo menos en las comunidades colombianas, deben descartarse las hipótesis que involucren componentes ambientales, tales como fungicidas y algunos tipos de avitaminosis como factores que predisponen al desarrollo de LPH, y enfocar las investigaciones en la determinación de dichos factores mendelianos.COL00067699application/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 amerindian/caucasian admixture populations from ColombiaAnálisis de segregación compleja de labio/paladar hendido no sindrómico en una población mixta amerindia/caucasoide de ColombiaCleft PalateFisura del PaladarGeneticsGenéticaSegregación CromosómicaChromosome SegregationGrupos ÉtnicosEthnic GroupsAntioquia (Colombia)Actual. Biol.Actualidades Biológicas55632272LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/20926/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD53ORIGINALFonsecaIdalyd_2000_NonsyndromicCleftLipPalate.pdfFonsecaIdalyd_2000_NonsyndromicCleftLipPalate.pdfArtículo de investigaciónapplication/pdf307126http://bibliotecadigital.udea.edu.co/bitstream/10495/20926/1/FonsecaIdalyd_2000_NonsyndromicCleftLipPalate.pdfe2fa572eed80bd7b700de1980c418129MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-81051http://bibliotecadigital.udea.edu.co/bitstream/10495/20926/2/license_rdfe2060682c9c70d4d30c83c51448f4eedMD5210495/20926oai:bibliotecadigital.udea.edu.co:10495/209262021-07-16 15:20:01.226Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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