INVESTIGADORES
LOPEZ CAMELO Jorge Santiago
artículos
Título:
Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina].
Autor/es:
SANTOS MR, , ; RAMALLO V; MUZZIO M, ; LOPEZ CAMELO JS; BAILLIET G.
Revista:
REVISTA MéDICA DE CHILE
Editorial:
SOC MEDICA SANTIAGO
Referencias:
Año: 2015 vol. 143 p. 444 - 450
ISSN:
0034-9887
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.
