Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
cic.isFulltext | true | es |
cic.isPeerReviewed | true | es |
cic.lugarDesarrollo | Instituto Multidisciplinario de Biología Celular | es |
cic.version | info:eu-repo/semantics/publishedVersion | es |
dc.date.accessioned | 2016-06-28T12:19:35Z | |
dc.date.available | 2016-06-28T12:19:35Z | |
dc.identifier.uri | https://digital.cic.gba.gob.ar/handle/11746/2336 | |
dc.title | Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina | es |
dc.type | Artículo | es |
dcterms.abstract | <strong>Background:</strong> 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.<strong> Material and methods:</strong> 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 |
dcterms.creator.author | Santos, María Rita | es |
dcterms.creator.author | Ramallo, Virginia | es |
dcterms.creator.author | Muzzio, Marina | es |
dcterms.creator.author | López Camelo, Jorge Santiago | es |
dcterms.creator.author | Bailliet, Graciela | es |
dcterms.extent | p. 444-450 | es |
dcterms.identifier.url | Documento completo | es |
dcterms.isPartOf.issue | vol. 143 | es |
dcterms.isPartOf.series | Revista Medica de Chile | es |
dcterms.issued | 2015 | |
dcterms.language | Español | es |
dcterms.license | Attribution 4.0 International (BY 4.0) | es |
dcterms.subject | Arylamine N-Acetyltransferase | en |
dcterms.subject | Cleft lip | en |
dcterms.subject | Cleft palate | en |
dcterms.subject.materia | Genética Humana | es |
dcterms.subject.materia | Odontología, Medicina y Cirugía Oral | es |
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