NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
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-acetyltransf...
| Autores: | , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2019 |
| País: | Argentina |
| Institución: | Comisión de Investigaciones Científicas de la Provincia de Buenos Aires |
| Repositorio: | CIC Digital (CICBA) |
| Idioma: | inglés |
| OAI Identifier: | oai:digital.cic.gba.gob.ar:11746/8714 |
| Acceso en línea: | https://digital.cic.gba.gob.ar/handle/11746/8714 |
| Access Level: | acceso abierto |
| Palabra clave: | Ciencias Biológicas N-acetiltransferase 2 ECLAMC N-acetiltransferasa 2 labio leporino paladar hendido cleft lip cleft palate |
| Sumario: | 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. |
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