European Journal of Biotechnology and Bioscience

Authors
Turgut Ozturk, Pinar Okyay, Fevzi Bardakci

Abstract
C/T polymorphism at the nucleotide position 1340 (codon position 447) in the CTR gene has beenrnassociated with osteoporosis and kidney stones. This study is set to determine the frequency of such anrnimportant polymorphism in the CTR gene in a Turkish population to determine their possiblernsusceptibly to the diseases that have been associated in previous studies. CTR gene was amplified byrnPolymerase Chain Reaction (PCR) from 489 healthy blood donors from Aydın province where isrnlocated on the Southern Aegean Region of Turkey. To detect C/T polymorphism in CTR gene, a PCRrnproduct of 228 bp was digested with restriction enzyme Alu I. Data obtained revealed three genotypesrnso called C/C, C/T and TT of which frequencies were 16.35%, 47.44% and 36.21%, respectively. Thernfrequency of the mutant T allele was 0.5992 in the Turkish population. The Turkish population showedrna close similarity with Italian population with regard to genotype and allele frequencies of CTR gene.rnThe population studied was in Hardy-Weinberg equilibrium suggesting that there is no strong selectionrnin favor of any genotype. Frequency of heterozygote genotype, which has been suggested being lessrnprone to osteoporosis, was higher than Japanese and Asian populations.