NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes

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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: Santos, María Rita, Campaña, Hebe, Jurado Medina, Laura Smeldy, Sala, Camila, Muzzio, Marina, López-Camelo, Jorge Santiago, Bailliet, Graciela
Formato: Articulo
Lenguaje:Inglés
Publicado: 2019
Materias:
Antropología
N-acetiltransferase 2; cleft lip; cleft palate; ECLAMC
N-acetiltransferasa 2; labio leporino; paladar hendido; ECLAMC
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/71874
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-71874
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
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
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