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ASSOCIATION BETWEEN NAT2 POLYMORPHISMS WITH NON-SYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE IN ARGENTINA

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

dc.contributoren-US
dc.contributorCICPBA, CONICET, ANCyPes-ES
dc.creatorSantos, María Rita; Instituto de Biología Celular y Molecular (IMBICE)
dc.creatorRamallo, Virginia; Instituto de Biología Celular y Molecular (IMBICE). CICPBA, CCT-CONICET-La Plata, La Plata, Argentina
dc.creatorMuzzio, Marina; Instituto de Biología Celular y Molecular (IMBICE). CICPBA, CCT-CONICET-La Plata, La Plata, Argentina
dc.creatorLópez Camelo, Jorge S.; Instituto de Biología Celular y Molecular (IMBICE). CICPBA, CCT-CONICET-La Plata, La Plata, Argentina CEMIC, Buenos Aires, Argentina
dc.creatorBailliet, Graciela; Instituto de Biología Celular y Molecular (IMBICE). CICPBA, CCT-CONICET-La Plata, La Plata, Argentina
dc.date2015-03-26
dc.date.accessioned2019-11-11T18:27:41Z
dc.date.available2019-11-11T18:27:41Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/3406
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/111254
dc.descriptionBackground: 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.en-US
dc.descriptionBackground: 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.es-ES
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dc.languagespa
dc.publisherRevista Médica de Chilees-ES
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dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/3406/18313
dc.sourceRevista Médica de Chile; Vol. 143, núm. 4 (2015): ABRIL 2015es-ES
dc.source0034-9887
dc.subjectArylamine N-Acetyltransferase; Cleft lip; Cleft palateen-US
dc.subjectArylamine N-Acetyltransferase; Cleft lip; Cleft palates-ES
dc.titleASSOCIATION BETWEEN NAT2 POLYMORPHISMS WITH NON-SYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE IN ARGENTINAen-US
dc.titleAsociación entre polimorfismos del gen NAT2 y Fisura labiopalatina no sindrómica en Argentinaes-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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