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Rev. méd. Chile ; 143(4): 444-450, abr. 2015. tab
Artigo em Espanhol | LILACS | ID: lil-747550

RESUMO

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.


Assuntos
Feminino , Humanos , Masculino , Arilamina N-Acetiltransferase/genética , Fenda Labial/genética , Fissura Palatina/genética , Polimorfismo de Fragmento de Restrição/genética , Alelos , Análise do Polimorfismo de Comprimento de Fragmentos Amplificados , Análise de Variância , Argentina , Pai , Predisposição Genética para Doença , Genótipo , Triagem de Portadores Genéticos , Desequilíbrio de Ligação , Mães
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