ENILDA RRAPAJ1, ETHEM RUKA2 and GRIGOR ZORAQI3
1Faculty of Natural Sciences, Tirana;
2Department of Molecular Biology, Faculty of Natural Sciences, Tirana;
3Center of Molecular Diagnosis and Genetic Research, University Hospital of Obstetrics and Gynecology “Queen Geraldine”, Tirana.
*Corresponding author e-mail: rukaethem@gmail.com
Abstract
Mutations of CFTR gene are identified as the molecular basis of cystic fibrosis (CF) disease, but there are also other “modifier” genes, that influence the pathogenesis of the patients with CF. One such modifier genes is β2-adrenoreceptor gene (ADRB2). The aim of this study is the identification of polymorphic variants of this gene, in the locus Gln27Glu, in Albanian CF patients, in order to elucidate possible relations with clinical signs of the patients. We analyzed 47 patients with CF, which have the same genotype for CFTR gene, delF508 homozygous. DNA was extracted using standard methods from 5 ml of blood samples with EDTA. To identify genetic variants of this gene we used AS-PCR method and gel electrophoresis. Calculation of allele frequencies was done according to formulas in genetics of population.The method used for this study (AS – PCR) was very effective, with high sensitivity and low cost. We found out that in Gln27Glu locus, the frequency of Gln27 and Glu27 alleles were 0,62 and 0,38 respectivily.After genotyping ADRB2 gene in locus 27 for each patient, we defined groups of patients with the same genotype. In future, we will use subgroups of CF patients with the same genotypes for ADBR2 gene, in order to analyze the relationship between genotypes Gln27Glu and clinical parameters of CF disease. Identification of polymorphic variants of B2AR modifier gene in CF patients, could be useful in predicting clinical status of the patients and can help to perform differentiated treatments.
Keywords:B2AR gene, AS-PCR, allele frequency, Gln27Glu, CF-cystic fibrosis
