Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina

Autores
Santos, María Rita; Ramallo, Virginia; Muzzio, Marina; López Camelo, Jorge Santiago; Bailliet, Graciela
Año de publicación
2015
Idioma
español castellano
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background: NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment. Aim: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP. Material and Methods: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT). Results: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03). Conclusions: The presence of *5 allele is significantly higher in cases with congenital NSCLP.
Facultad de Ciencias Naturales y Museo
Instituto Multidisciplinario de Biología Celular
Materia
Ciencias Naturales
Arylamine N-acetyltransferase
Cleft lip
Cleft palate
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by-nc-sa/4.0/
Repositorio
SEDICI (UNLP)
Institución
Universidad Nacional de La Plata
OAI Identificador
oai:sedici.unlp.edu.ar:10915/86112
Acceder
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oai_identifier_str oai:sedici.unlp.edu.ar:10915/86112
network_acronym_str SEDICI
repository_id_str 1329
network_name_str SEDICI (UNLP)
spelling Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en ArgentinaAssociation between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in ArgentinaSantos, María RitaRamallo, VirginiaMuzzio, MarinaLópez Camelo, Jorge SantiagoBailliet, GracielaCiencias NaturalesArylamine N-acetyltransferaseCleft lipCleft palateBackground: NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment. Aim: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP. Material and Methods: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT). Results: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03). Conclusions: The presence of *5 allele is significantly higher in cases with congenital NSCLP.Facultad de Ciencias Naturales y MuseoInstituto Multidisciplinario de Biología Celular2015info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdf444-450http://sedici.unlp.edu.ar/handle/10915/86112spainfo:eu-repo/semantics/altIdentifier/issn/0034-9887info:eu-repo/semantics/altIdentifier/doi/10.4067/S0034-98872015000400005info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/4.0/Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-09-03T10:49:17Zoai:sedici.unlp.edu.ar:10915/86112Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-09-03 10:49:17.675SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina
title Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
spellingShingle Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
Santos, María Rita
Ciencias Naturales
Arylamine N-acetyltransferase
Cleft lip
Cleft palate
title_short Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
title_full Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
title_fullStr Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
title_full_unstemmed Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
title_sort Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
dc.creator.none.fl_str_mv Santos, María Rita
Ramallo, Virginia
Muzzio, Marina
López Camelo, Jorge Santiago
Bailliet, Graciela
author Santos, María Rita
author_facet Santos, María Rita
Ramallo, Virginia
Muzzio, Marina
López Camelo, Jorge Santiago
Bailliet, Graciela
author_role author
author2 Ramallo, Virginia
Muzzio, Marina
López Camelo, Jorge Santiago
Bailliet, Graciela
author2_role author
author
author
author
dc.subject.none.fl_str_mv Ciencias Naturales
Arylamine N-acetyltransferase
Cleft lip
Cleft palate
topic Ciencias Naturales
Arylamine N-acetyltransferase
Cleft lip
Cleft palate
dc.description.none.fl_txt_mv Background: NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment. Aim: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP. Material and Methods: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT). Results: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03). Conclusions: The presence of *5 allele is significantly higher in cases with congenital NSCLP.
Facultad de Ciencias Naturales y Museo
Instituto Multidisciplinario de Biología Celular
description Background: NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment. Aim: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP. Material and Methods: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT). Results: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03). Conclusions: The presence of *5 allele is significantly higher in cases with congenital NSCLP.
publishDate 2015
dc.date.none.fl_str_mv 2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Articulo
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/86112
url http://sedici.unlp.edu.ar/handle/10915/86112
dc.language.none.fl_str_mv spa
language spa
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/0034-9887
info:eu-repo/semantics/altIdentifier/doi/10.4067/S0034-98872015000400005
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
dc.format.none.fl_str_mv application/pdf
444-450
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
instacron:UNLP
reponame_str SEDICI (UNLP)
collection SEDICI (UNLP)
instname_str Universidad Nacional de La Plata
instacron_str UNLP
institution UNLP
repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
repository.mail.fl_str_mv alira@sedici.unlp.edu.ar
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score 13.13397

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