Artículos de revistas
Asociación entre polimorfismos del gen NAT2 y fisura labioleporina no sindrómica en Argentina
Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina
Fecha
2015-04Registro en:
Santos, María Rita; Ramallo, Virginia; Muzzio, Marina; López Camelo, Jorge Santiago; Bailliet, Graciela; Asociación entre polimorfismos del gen NAT2 y fisura labioleporina no sindrómica en Argentina; Soc Medica Santiago; Revista Médica De Chile; 143; 4; 4-2015; 444-450
0034-9887
0717-6163
CONICET Digital
CONICET
Autor
Santos, María Rita
Ramallo, Virginia
Muzzio, Marina
López Camelo, Jorge Santiago
Bailliet, Graciela
Resumen
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.