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 ...

objective(s): epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. in dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type vii collagen protein which produce anchoring fibrils. type vii ...

Background: Co-inheritance of hemochromatosis (HFE) gene mutations may play an essential role in the pathogenesis of iron overload in beta-thalassemia major (BTM) patients. The present study aimed to investigate the prevalence of HFE C282Y and H63D mutations in BTM patients and their correlation with some demographic data and biochemical iron markers. Materials and Methods: The study populat...

An inherited hypochromic microcytic anemia transmitted in an autosomal manner has been observed in three generations of an English family. Affected members had the hallmarks of heterozygous beta-thalassemia, ie, elevated levels of hemoglobin A2 and imbalanced globin chain synthesis. However, despite extensive sequence analysis, no mutations could be found in or around the beta-globin genes of e...

BACKGROUND An improved understanding of the regulation of the fetal hemoglobin genes holds promise for the development of targeted therapeutic approaches for fetal hemoglobin induction in the β-hemoglobinopathies. Although recent studies have uncovered trans-acting factors necessary for this regulation, limited insight has been gained into the cis-regulatory elements involved. METHODS We iden...

objectives the present study aimed to evaluate the genotypes and prevalence of mutations in a segment of s and rt gene in hbv isolates in southern khorasan, iran. methods this was a population-based study comprising 5,235 randomized samples for hbv screening. a nested-polymerase chain reaction (pcr) test was followed by direct sequencing, and the sequences blast with present sequences of ncbi d...

We determined whether a child with 17α-hydroxylase/17, 20-lyase deficiency possessed the sex-determining region (SRY) gene, and examined the mutations present in the CYP17A1 gene that led to 17α-hydroxylase/17, 20-lyase deficiency. In the child, karyotype analysis was performed and polymerase chain reaction analysis and electrophoretic techniques were used to identify the SRY gene. A total of 5...

Beta-thalassemia (β-thal) is one of the most common autosomal recessive single gene disorders worldwide [1]. At least 200 different mutations in the β-globin gene that result in the β-thal minor and major phenotypes have been described [2,3]. The incidence of β-thal is high in Mediterranean regions, Iran, India, The Arabian Peninsula, Southeast Asia, and Turkey [4]. β-thal is characterized by p...

BACKGROUND The Fas system regulates a number of physiological and pathological processes of cell death. Many types of cancer cells are resistant to Fas-mediated apoptosis by several mechanisms, including mutations of the genes involved in Fas-mediated apoptosis. The present study aimed to detect Fas pathway gene alterations in primary resected esophageal squamous cell carcinoma (ESCC). METHOD...

Introduction: Cataract is main cause of reversible blindness and visual impairment. Risk factors include anti-hyperlipidemic drugs such as statin. However, the mechanism statins a risk factor for cataracts not clear. The antioxidant effect statin reported in some studies while other showed negative results. This study was conducted to understand association cataract users with gene abnormalitie...