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...
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Autores principales: | , , , , , , |
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Formato: | Articulo |
Lenguaje: | Inglés |
Publicado: |
2019
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Materias: | |
Acceso en línea: | http://sedici.unlp.edu.ar/handle/10915/71874 http://suquia.ffyh.unc.edu.ar/handle/suquia/11497 |
Aporte de: |
id |
I10-R181-suquia-11497 |
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record_format |
dspace |
institution |
Universidad Nacional de Córdoba |
institution_str |
I-10 |
repository_str |
R-181 |
collection |
Suquía - Instituto de Antropología de Córdoba (IDACOR, CONICET y UNC) |
language |
Inglés |
topic |
Antropología N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC N-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMC |
spellingShingle |
Antropología N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC N-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMC Santos, María Rita Campaña, Hebe Jurado Medina, Laura Smeldy Sala, Camila Muzzio, Marina López-Camelo, Jorge Santiago Bailliet, Graciela NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes |
topic_facet |
Antropología N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC N-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMC |
description |
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. |
format |
Articulo Articulo |
author |
Santos, María Rita Campaña, Hebe Jurado Medina, Laura Smeldy Sala, Camila Muzzio, Marina López-Camelo, Jorge Santiago Bailliet, Graciela |
author_facet |
Santos, María Rita Campaña, Hebe Jurado Medina, Laura Smeldy Sala, Camila Muzzio, Marina López-Camelo, Jorge Santiago Bailliet, Graciela |
author_sort |
Santos, María Rita |
title |
NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes |
title_short |
NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes |
title_full |
NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes |
title_fullStr |
NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes |
title_full_unstemmed |
NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes |
title_sort |
nat2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes |
publishDate |
2019 |
url |
http://sedici.unlp.edu.ar/handle/10915/71874 http://suquia.ffyh.unc.edu.ar/handle/suquia/11497 |
work_keys_str_mv |
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Repositorios |
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