1. Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina
- Author
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María Rita Santos, Virginia Ramallo, Graciela Bailliet, Marina Muzzio, and Jorge Santiago López Camelo
- Subjects
Genetics ,Candidate gene ,Linkage disequilibrium ,Cleft lip ,Genética Humana ,Wild type ,General Medicine ,Biology ,Odontología, Medicina y Cirugía Oral ,Arylamine N-acetyltransferase ,Polymorphism (computer science) ,Cleft palate ,Genotype ,Genetic predisposition ,Ciencias Naturales ,Allele ,Restriction fragment length polymorphism - Abstract
Background: NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment. Aim: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP. Material and Methods: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT). Results: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03). Conclusions: The presence of *5 allele is significantly higher in cases with congenital NSCLP., Facultad de Ciencias Naturales y Museo, Instituto Multidisciplinario de Biología Celular
- Published
- 2015