FREQUENCY OF THE CFTR 2694T/G POLYMORPHISM AND ITS ASSOCIATION WITH CFTR-RELATED MONOSYMPTOMATIC DISORDERS
Nikolic A, Divac A, Kusic J, Savic A
*Corresponding Author: Dr. Aleksandra Nikolic, Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, P. O. Box 446, 11001 Belgrade, Yugoslavia; Tel: +381-11-397-6658; Fax: +381-11-397-5808; E-mail: qwert@eunet.yu
page: 43

DISCUSSION

CFTR polymorphism 2694T/G is designated as a common CFTR polymorphism, but data about its frequency can be found only in a small number of publications. The obtained frequency of this polymorphism (2694G allele) in the Yugoslav population, 29%, is within the range of values published for some other populations of Southern Europe: 33% in Northeast Italy, 23% in Central Italy, 33% in Southern France [7]. Results of this study are the first data on the frequency of this CFTR polymorphism in a healthy Yugoslav population.

Our results, expressed either as genotype or allelic frequencies, show no significant difference between the three groups examined. These findings lead to the conclusion that the presence of the 2694T/G polymorphism is not connected to the development of CBAVD and chronic pancreatitis.




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