The Effect of Five Single Nucleotide Polymorphisms on Hb F Variation of ß-Thalassemia Traits and Hematologically Normal Individuals in Southeast Turkey.

ß-Thalassemia (ß-thal) is caused by deficiency of ß-globin chain synthesis and leads to the accumulation of unstable globin chain production. This results in a higher Hb F level in order to neutralize the excess α chains. In addition, γ-globin gene expression, due to genetic factors after birth, leads to increased Hb F levels in adulthood [hereditary persistence of fetal hemoglobin (Hb) (HPFH)]. In this study, the relationship between ß-thal trait and individuals with suspected HPFH and a control group was investigated in Adiyaman, Turkey. Single nucleotide polymorphism (SNP) analyses were performed in five different polymorphic regions using real-time polymerase chain reaction (qPCR) methods [rs4671393 (G>A), rs766432 (A>C), rs9402686 (G>A), rs28384513 (T>G), rs1609812 (A>G)]. No significant difference was found between the control and ß-thal group in the codominant inheritance model in the rs1609812 (A>G) polymorphism region only, while all the other polymorphic regions were found to be statistically significant. It was found that different genotype models increased Hb F levels between 1.6- and 3.06-fold in four studied polymorphic regions [rs4671393 (G>A), rs766432 (A>C), rs9402686 (G>A), rs28384513 (T>G)]. All of the polymorphic regions increased the Hb F levels from 1.86- to 24.76-fold, except rs9402686 (G>A) and rs28384513 (T>G) over dominant and rs1609812 (A>G) codominant inheritance models. The AC and AA genotypes increased Hb F levels in the B-cell CLL/lymphoma 11 A haplotype studies. It was determined that both haplotypes 2 and 4 increased Hb F levels. As a result, SNPs strongly affect the Hb F levels in both healthy individuals and ß-thal trait.

The protective effect of resveratrol against risperidone-induced liver damage through an action on FAS gene expression.

The purpose of the study is to examine the protective effect of resveratrol on the fatty acid synthase gene expression against the side-effects of risperidone in an experimental model in rat liver. In this study, thirty-five female Spraque-Dawley rats were divided into five groups (n = 7): Control, RIS (2 mg/kg risperidone daily), RSV1 (2 mg/kg risperidone + 20 mg/kg resveratrol), RSV2 (2 mg/kg risperidone + 40 mg/kg resveratrol), and RSV3 group (2 mg/kg risperidone + 80 mg/kg resveratrol). On treatment day 15, liver tissue was taken for analysis. The resveratrol treatment significantly reduced weight gain as opposed to the risperidone administration. Moreover, the fatty acid synthase gene expression level increased significantly in RSV1 group (p = 0.011). In addition, resveratrol enhanced the total antioxidant status, high-density lipoprotein cholesterol levels and decreased alanine aminotransferase, aspartate aminotransferase, total cholesterol, gamma glutamyl transpeptidase, low density lipoprotein cholesterol, oxidative stress index, triglycerides, and total oxidant status levels significantly (p < 0.05). In conclusion, this study revealed that treatment with resveratrol might protect liver tissue against the side--effects of risperidone over fatty acid synthase gene expression. Resveratrol could be an effective course of therapy for enhancing therapeutic efficacy.

There is no significant association between death receptor 4 (DR4) gene polymorphisms and lung cancer in Turkish population.

Death receptor 4 (DR4) gene is a candidate tumor suppressor gene that has a role in apoptotic pathway. It was reported in literature that polymorphisms in DR4 gene lead to susceptibility to many cancers. In accordance with this information, we aimed to investigate the association between G422A, C626G, A683C and A1322G polymorphisms in DR4 gene and lung cancer. We selected 60 patients with lung cancer (LC) and 30 healthy, sex and age matched volunteers randomly. Four polymorhisms, G422A, C626G, A683C and A1322G, in DR4 gene were analyzed with Polymerase Change Reaction (PCR)--Restriction Fragment Lenght Polymorphism (RFLP) and Amplification Refractory Mutation System (ARMS) techniques in both groups. Our results showed that there are no statistically significances between the patients and controls in terms of the G422A, C626G, A683C and A1322G polymorphisms in DR4 gene (p > 0,05). Our findings showed no role of DR4 gene polymorphisms in susceptibility to LC and provide a plausible explanation for DR4 genetic heterogeneity in LC susceptibility.

Prevalence of beta-thalassemia trait and abnormal hemoglobins in the province of Adiyaman, Turkey.

BACKGROUND/AIMS: Thalassemia is one of the most common hereditary disorders in Turkey. The aim of this study was to determine the prevalence of the beta-thalassemia trait and abnormal hemoglobins in the province of Adiyaman in Turkey. METHODS: The study included 3571 high school students of both sexes; aged 12-22 (mean 16.59 ± 1.34). After they received information about thalassemia, they were screened for beta-thalassemia and abnormal hemoglobin using complete blood count (CBC) and quantification of hemoglobin. Hemoglobin was fractionated using HPLC. RESULTS: The beta-thalassemia trait was found in 38 students (1.06%), and abnormal hemoglobin in seven students (0.20%). Of the latter, four carried HbD Los Angeles, two HbS, and one HbE-Saskatoon. CONCLUSION: The prevalence of the beta-thalassemia trait and abnormal hemoglobin in the province of Adiyaman is low, compared to the rest of Turkey. Our results seem to reflect the heterogeneity of beta-thalassemia in the province of Adiyaman and may be of value for genetic counseling and premarital screening.

Prevalence and molecular analysis of ß-thalassemia in Adiyaman, Turkey.

Thalassemia is one of the most common hereditary disorders in the Mediterranean region. We report here the results of a premarital screening carried out in Adiyaman in the southeastern region of Turkey, a region with a hitherto unknown incidence of ß-thalassemia (ß-thal). In order to detect ß-thal carrier frequency and genotypes of carriers from the city of Adiyaman, Turkey, both high performance liquid chromatography (HPLC) and the red blood cell counts of 1616 people who applied for premarital tests were analyzed. Blood cell counts were measured by a cell counter and the hemoglobin (Hb) fractionation was carried out by HPLC. The frequency of ß-thal carriers in the city of Adiyaman was 1.91% and the frequency of abnormal Hbs was 0.07%. We report 28 chromosomes of ß-thal traits with 10 different mutations, including the first report of codon 17 (AAG>TAG) in Turkey and one individual who was heterozygous for Hb D-Los Angeles [ß121(GH4)Glu→Gln, GAA>CAA]. This study was the first to be performed on the frequency and molecular pathology of ß-thal mutations in Adiyaman in the southeastern region of Turkey. We report that the prevalence of the thalassemia trait is similar in all regions of our country, but the prevalence of mutation heterogeneity varies from region to region.