Arg16Gly polymorphism of human β2-adrenoceptor gene in Albanian healthy population and patients with cystic fibrosis

摘要

Cystic fibrosis (CF) caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), is mostly characterized by pancreatic insufficiency, airway obstruction, and male infertility. It has been verified that polymorphisms in the β2 adrenergic receptor (ADRB2) gene, affect phenotype variation in cystic fibrosis patients. In particular, the Arg16Gly polymorphism is related to an individual’s airway responsiveness. The aim of this study was to evaluate Arg16Gly polymorphism in 47 healthy individuals and 66 cystic fibrosis patients, in order to find out the differences among them. This polymorphism in ADRB2 gene was screened by using allele specific-polymerase chain reaction (AS-PCR). Genotype and allele frequencies were calculated in healthy population and CF patients, who were identified previously as homozygous delta F508 for CFRT gene. No significant differences were found in genotype frequencies between two groups (χ2=0. 987; p <0.05). Our data of Arg16Gly polymorphism in the healthy and CF patients are the first data in Albanian population.