Frequency of G-globin promoter -158 (C>T) Xmn I polymorphism in Denizli, Turkey
نویسندگان
چکیده
The effect of -158 (C>T) Xmn I polymorphism on expression of G-globin gene has been the subject of considerable interest. This study aims to determine the frequency of the G Xmn I polymorphism in thalassemia patients in Denizli province of Turkey. We studied Xmn I polymorphism in the DNA samples of 27 with -thalassemia major, 210 -thalassemia minor patients and 100 healthy subjects as the control group. According to our results, 4/54 chromosomes (7.4%) from homozygous -thalassemia patients, 37/210 chromosomes (17.6%) from heterozygous -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 ° IVS II-1 (89.0%), ° codon 44 (75.0%) and + -87 (66.0%) mutations showed relatively higher Xmn I polymorphism frequency regarding to the other thalassemia mutations. Xmn I polymorphism was fairly low in -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 -globin gene interactions for the region.
منابع مشابه
Beta globin gene cluster haplotypes of the beta thalassemia mutations observed in the Denizli province of Turkey Denizli yöresinde gözlenen beta talasemi mutasyonlarına ait beta globin gen ailesi haplotipleri
Objective: Our aim was to identify the beta globin gene cluster haplotypes for the beta thalassemia mutations in Turkey on a regional level. Beta thalassemia mutations included in this study were IVS-I-110 (G>A), FSC 8/9 (+G), IVS-II-1 (G>A), IVS-I-5 (G>C), IVS-I-1 (G>A), IVS-I-6 (T>C), and FSC 8 (-AA). Methods: We studied 22 unrelated patients with β-thalassemia major and 72 unrelated healthy ...
متن کاملAssociation between XmnI Polymorphism and HbF Level in Sickle Cell Disease Patients from Chhattisgarh
The γ(G)-158 (C→T) polymorphism plays important function in the disease severity of sickle cell anemia. The XmnI restriction site at -158 position of the γ(G)-gene is associated with increased expression of the γ(G)-globin gene and higher production of HbF. This study aims to determine the frequency of the different genotypes of the γ(G) Xmn I polymorphism in sickle cell anemia and sickle cell ...
متن کاملموتاسیونهای شایع بتا تالاسمی درمنطقه شمالغرب ایران
Introduction: β –Thalassaemia was first explained by Thomas Cooly as Cooly’s anaemia in 1925. The β- thalassaemias are hereditary autosomal disorders with decreased or absent β-globin chain synthesis. The most common genetic defects in β-thalassaemias are caused by point mutations, micro deletions or insertions within the β-globin gene. Material and Methods: In this research , 142 blood sampl...
متن کاملXmn1-158 γGVariant in B-Thalassemia Intermediate Patients in South-East of Iran
Background: Xmn-1 polymorphism of 𝜸Gglobin gene (HBG2) is a prominent quantitative trait loci (QTL) in β-thalassemia intermediate (β-TI). In current study, we evaluated the frequency of Xmn-1 polymorphism and its association with β-globin gene (HBB) alleles and Hb F level in β-TI patients in Sistan and Balouchestan province, south-east of Iran. Subjects and Methods: 45 β-TI patients were enroll...
متن کاملβ-Thalassemia Intermedia in Northern Iraq: A Single Center Experience
To investigate the molecular basis of β -thalassemia intermedia in Northern Iraq and evaluate its management practices, a total of 74 patients from 51 families were enrolled. The patients were clinically and hematologically reevaluated, and had their β-thalassemia mutations characterized, as well as the number of α-globin genes and Xmn I (G)γ-158 (C>T) polymorphism studied. Out of 14 β-thalasse...
متن کامل