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Association of polymorphism G590A of the NAT2 gene with congenital cleft lipand palate in Krasnodar region

Abstract

Congenital cleft lip and/or palate is a common birth defect, which is characterized by severe anatomical and functional disorders. Nonsyndromic congenital malformations are treated as multifactorial diseases, whose development is determined by genetic factors, environmental influences and gene-environment interactions. Xenobiotic detoxification enzyme genes may play an important role in predisposition to the congenital malformations development. The aim of the present study was to investigate whether G590A of the NAT2 gene is associated with congenital cleft lip and palate in Krasnodar region. This SNP was genotyped in 105 children and their 154 parents. We found a significant difference in the frequency of genotype 590AA between cleft lip and/or palate and control females (c2 =4.21 p=0.04). The present study provides an evidence for a possible role of the NAT2 gene in the development of congenital cleft lip and/or palate.

About the Authors

M. O. Nekhoroshkina
Kuban State Medical University
Russian Federation


O. Yu. Bushueva
Kursk State Medical University
Russian Federation


A. V. Polonikov
Kursk State Medical University
Russian Federation


M. M. Darpinyan
Kuban State Medical University
Russian Federation


V. I. Golubtsov
Kuban State Medical University
Russian Federation


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Review

For citations:


Nekhoroshkina M.O., Bushueva O.Yu., Polonikov A.V., Darpinyan M.M., Golubtsov V.I. Association of polymorphism G590A of the NAT2 gene with congenital cleft lipand palate in Krasnodar region. Kursk Scientific and Practical Bulletin "Man and His Health". 2013;(4):33-37.

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ISSN 1998-5746 (Print)
ISSN 1998-5754 (Online)