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

RESULTS

The presence of the 2694T/G polymorphism was detected by DGGE analysis of exon 14a. Its presence was detected by comparison with already characterized samples, known to carry this polymorphism in homozygous or heterozygous states (Fig. 1).

In a group of 22 CBAVD patients the 2694G allele was detected in 10 subjects (nine heterozygous and one homozygous). Of 39 patients with chronic pancreatitis 20 had this polymorphism (18 heterozygous and two homozygous). Among 50 healthy blood donors 26 showed the presence of the polymorphism (23 heterozygous and three homozygous). The results are summarized in Tables 1 and 2.

 

Figure 1. DGGE analysis of exon 14a of CFTR gene

 

 

Table 1. Genotype frequencies in the three groups analyzed

 

 

 

        CBAVD: congenital absence of vas deferens.

         CP: chronic pancreatitis.

 

 

Table 2. Frequencies of the 2694G allele in the analyzed groups

 

 

 




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