NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes
| Autor: | Maria Rita Santos, Hebe Campaña, Laura Smeldy Jurado Medina, Camila Sala, Marina Muzzio, Jorge Santiago Lopez-Camelo, Graciela Bailliet |
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| Jazyk: | Spanish; Castilian |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Revista Argentina de Antropología Biológica, Vol 21, Iss 1 (2018) |
| Druh dokumentu: | article |
| ISSN: | 1514-7991 1853-6387 |
| DOI: | 10.17139/raab.2019.0021.01.08 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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