IMBICE   05372
INSTITUTO MULTIDISCIPLINARIO DE BIOLOGIA CELULAR
Unidad Ejecutora - UE
artículos
Título:
Asociación entre polimorfismos del gen NAT2 y Fisura labiopalatina no sindrómica en Argentina
Autor/es:
MARIA RITA SANTOS; VIRGINIA RAMALLO; MARINA MUZZIO; JORGE S LÓPEZ CAMELO; GRACIELA BAILLIET
Revista:
REVISTA MéDICA DE CHILE
Editorial:
SOC MEDICA SANTIAGO
Referencias:
Lugar: Santiago de Chile; Año: 2015 vol. 143 p. 444 - 450
ISSN:
0034-9887
Resumen:
Background: NAT genes are considered candidate genes for the geneticpredisposition 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 lengthpolymorphism 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.