Fetuses with homozygous -thalassemia usually die at the third trimester of pregnancy or soon after birth. Hence, the disease could potentially be a target for fetal gene therapy. We have previously established a mouse model of -thalassemia. These mice mimic the human -thalassemic conditions and can be used as preclinical models for fetal gene therapy. We tested a lentiviral vector containing th...

Background: In the previous study, we have shown that the presence of A allele at position -588 in γ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in γ-globin gene expression to ameliorate the severity of the di...

Background: In the previous study, we have shown that the presence of A allele at position -588 in γ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in γ-globin gene expression to ameliorate the severity of the di...

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...

Human beta-globin disorders are relatively common genetic diseases cause by mutations in the beta-globin gene. Increasing the expression of the gamma-globin gene has great benefits in reducing complications associated with these diseases. The Oct-1 transcription factor is involved in the transcriptional regulation of the gamma-globin gene. The human gamma-globin genes (both Agamma and Ggamma-gl...

The a globin gene locus of the common gibbon (Hylobates lar) was isolated, and it contains two closely linked a globin genes that share the same arrangement as that found for the homologous genes of other catarrhine primates. The nucleotide sequences of the gibbon a globin genes were determined and compared with the a globin gene sequences from other primate species (human, chimpanzee, oranguta...

objective(s): iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. however, to date there is no reliable information on the application of the markers in the iranian pop...

The mammalian -globin loci each contain a family of developmentally expressed genes, and a far upstream regulatory element, the locus control region (LCR). In adult murine erythroid cells, the LCR and the transcribed -globin genes exist within domains of histone acetylation and RNA polymerase II (pol II) is associated with them. In contrast, the silent embryonic genes lie between these domains ...

The human -globin locus has been extensively studied as a model of tissue and developmental stage-specific gene expression. Structural mapping of naturally occurring mutations, including transfection and transgenic studies, and the recent finding of intergenic transcripts have suggested that there are cis-acting sequence elements in the A – intergenic region involved in regulating and -globin g...

We have set up an experimental system to map the primary transcription unit of the human alpha 2 globin gene. The duplicated human alpha globin genes (alpha 2-alpha 1) were linked to the alpha globin locus Positive Regulatory Element (PRE) and stably transfected into murine erythroleukaemia cells. We then developed a quantitative reverse transcriptase, polymerase chain reaction assay to map alp...