Abstract

The effect of -158 (C>T) Xmn I polymorphism on expression of Gg-globin gene has been the subject of considerable interest. This study aims to determine the frequency of the GgXmn I polymorphism in b-thalassemia patients in Denizli province of Turkey. We studied Xmn I polymorphism in the DNA samples of 27 with b-thalassemia major, 210 b-thalassemia minor patients and 100 healthy subjects as the control group. According to our results, 4/54 chromosomes (7.4%) from homozygous b-thalassemia patients, 37/210 chromosomes (17.6%) from heterozygous b-thalassemia carriers and 43/200 chromosomes (21.5%) from the control group were found to be positive for the Xmn I polymorphism. Besides, Xmn I polymorphism frequency of b° IVS II-1 (89.0%), b° codon 44 (75.0%) and b⁺ -87 (66.0%) mutations showed relatively higher Xmn I polymorphism frequency regarding to the other b-thalassemia mutations. Xmn I polymorphism was fairly low in b-thalassemia patients and in the normal population in the region. We think that will be for the better explained with the other single nucleotide polymorphisms (SNPs) or the combinations associated with Xmn I polymorphism of b-globin gene interactions for the region.

Key words: Denizli, b-thalassemia mutations, Gg- Xmn I polymorphism.