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

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...

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Autores principales:	Santos,María Rita, Ramallo,Virginia, Muzzio,Marina, López Camelo,Jorge S, Bailliet,Graciela
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2015
Materias:	Arylamine N-Acetyltransferase Cleft lip Cleft palate
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000400005
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spelling	oai:scielo:S0034-988720150004000052015-10-19Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en ArgentinaSantos,María RitaRamallo,VirginiaMuzzio,MarinaLópez Camelo,Jorge SBailliet,Graciela Arylamine N-Acetyltransferase Cleft lip Cleft palate 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.143 n.4 20152015-04-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000400005es10.4067/S0034-98872015000400005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Arylamine N-Acetyltransferase Cleft lip Cleft palate
spellingShingle	Arylamine N-Acetyltransferase Cleft lip Cleft palate Santos,María Rita Ramallo,Virginia Muzzio,Marina López Camelo,Jorge S Bailliet,Graciela Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
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.
author	Santos,María Rita Ramallo,Virginia Muzzio,Marina López Camelo,Jorge S Bailliet,Graciela
author_facet	Santos,María Rita Ramallo,Virginia Muzzio,Marina López Camelo,Jorge S Bailliet,Graciela
author_sort	Santos,María Rita
title	Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
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
publisher	Sociedad Médica de Santiago
publishDate	2015
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000400005
work_keys_str_mv	AT santosmariarita asociacionentrepolimorfismosdelgennat2yfisuralabiopalatinanosindromicaenargentina AT ramallovirginia asociacionentrepolimorfismosdelgennat2yfisuralabiopalatinanosindromicaenargentina AT muzziomarina asociacionentrepolimorfismosdelgennat2yfisuralabiopalatinanosindromicaenargentina AT lopezcamelojorges asociacionentrepolimorfismosdelgennat2yfisuralabiopalatinanosindromicaenargentina AT baillietgraciela asociacionentrepolimorfismosdelgennat2yfisuralabiopalatinanosindromicaenargentina
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Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina

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