Alpha thalassemia is a genetic disease characterized by insufficient expression or definite absence of the α-globin chain. Three large deletions (thal-1; 26.5 kb MedII, 20.5 and 17.4 MedI) two small (thal-2; 4.2 3.7 kb) have been in our country. In addition, different PolyA mutations (PA1: AATAAA>AATAAG PA2: AATAAA>AATGA) on α2-globin gene (αα/αPAα), 5nt deletion (αα/α5ntα), unstable Hb v...

The APC (adenomatous polyposis coli) gene is responsible for familial adenomatous polyposis and is also associated with the development of sporadic tumors of the colon and stomach. To investigate whether or not mutations of APC play any role in tumors arising in other organs, we examined somatic mutations of this gene in sporadic (nonfamilial) renal cell carcinomas, hepatocellular carcinomas, a...

background: differentiation ofmesenchymal stem cells (mscs) to hepatocyte-like cells could be associated with development of liver function factors. the impact of differentiation-dependent changes on dna integrity is not well understood. in this study, hepatocytes and their progenitor stem cells were treated with aflatoxin b1 (afb1) and amplification of selected genes linked to dna damage was e...

background: the majority of α-thalassemi mutations are deletions of one or both α-globin genes. since the iranian populaion is a mixture of different ethnic groups, frequency and distribution of globin mutations in various regions of the country need to be clarified. the aim of this study was to determine the common alpha globin gene deletions among individuals with hypochromic microcytic anemi...

Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...

Background & objectives: The researcher clarified that β/Globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. Materials and methods: A total of 150 subjects was investigated in two different groups for five polymorphism restriction site...

Single strand conformation polymorphism (SSCP) is a reproducible, rapid and quite simple method for the detection of deletions/insertions/rearrangements in polymerase chain reaction amplified DNA. All the details for the use of PCR-SSCP are presented in the direction of genetic diseases (beta-thalassaemia, cystic fibrosis), optimum gel conditions, sensitivity and the latest modifications of the...

background neuroblastoma is the most common extracranial malignant solid tumor in children under 5 years, and it is characterized by wide clinical and biological heterogeneity. n-myc oncogene amplification is considered to be one of the most important prognostic factors used to evaluate survival in these patients. objectives the aim of our study was to determine amplification of the n-myc oncog...

normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 β-thalassemia (cooley anemia) initially was described by dr cooley. [1] it is recognized that various types of thalassemia are inherited anemia caused by mutations at the globin gene, affecting the production of é‘ - or β-globin protein. the anemia interferes with red cell maturation. [2] β-globin gene mutations give rise ...