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Revista argentina de antropología biológica

versão On-line ISSN 1514-7991


SANTOS, María Rita et al. NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes. Rev Arg Antrop Biol [online]. 2019, vol.21, n.1, pp.1-10. ISSN 1514-7991.

Non-syndromic cleft lip with or without cleft palate (NSCLP) is a congenital malformation that shows the characteristics of a multifactorial pathology. In order to describe the genetic predisposition to this disorder, NAT genes were analyzed with special interest since they codify for N-acetyltransferases, the enzymes responsible for the biotransformation of arylamines, hydrazine drugs and a great number of toxins and carcinogens present in diet, cigarette smoke and the environment. The allelic transmission of NAT2 that determines the slow acetylator phenotype in 174 trios (case-mother/father) from ECLAMC (Latin American Collaborative Study of Congenital Malformations) maternities in Argentina was evaluated. The *4, *5B, *6, and *7 variants by PCR-RFLP were analyzed. A higher risk for the 5B*5B* genotypes (OR=2. 24; p=0.050) was found, at the expense of the cases from Patagonia, without the influence of the maternal genotype. Rev Arg Antrop Biol 21(1), 2019. doi:10.17139/raab.2019.0021.01.08

Palavras-chave : N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC.

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