background: &beta-thalassemia; is the most common monogenic disorder in human. the (ct) polymorphism at -158 upstream region of the &gammag-globin; gene and pharmacological factors such as hydroxyurea have been reported to influence &gamma-globin; gene expression and the severity of clinical symptoms of &beta-thalassemia.; methods: in the present study, 51 &beta-thalassemia; intermediate patie...

background: xmn-1 polymorphism of y g globin gene ( hbg2 ) is a prominent quantitative trait loci (qtl) in β-thalassemia intermediate (β-ti). in current study, we evaluated 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. methods: 45 β-ti patients were enrolled. hbb gen...

Background: Recombination Activating Genes (RAG) mutated embryonic stem cells are (ES) cells which are unable to perform V (D) J recombination. These cells can be used for generation of immunodeficient mouse. Creating biallelic mutations by CRISPR/Cas9 genome editing has emerged as a powerful technique to generate site-specific mutations in different sequences. Ob...

Pseudohypoaldosteronism (PHA) is characterized by congenital resistance of the kidney and/or other mineralocorticoid target tissues to aldosterone, resulting in excessive salt wasting. Mineralocorticoid receptor (MR) and postreceptor defects in the aldosterone-responsive amiloride-sensitive sodium channel (ENaC) subunits have been suggested as potential loci of the defect in this disease, where...

Ia molecules expressed by an HLA-DRw6 homozygous cell line were immunoprecipitated with anti-Ia allosera and monoclonal antibodies and analyzed by 2-D gel electrophoresis. The DRw6 homozygous cell line was shown to express two DS beta chains; this observation extends our previous finding that a DR5 homozygous cell line expresses two DS beta chains and suggests that the expression of at least tw...

Background: Dystrophic Epidermolysis bullosa (DEB) is one of the EB types caused by a mutation in COL7A1 gene, which encodes collagen type 7 and main component anchoring fibrils. Objectives: This study aimed to investigate gene mutations five families patients. Khuzestan suffering from EB. Methods: After extracting genomic DNA peripheral blood samples probands, screening was performed using pol...

BackgroundHomozygous familial hypercholesterolemia (HoFH) is life-threatening orphan disease characterized by high levels of low-density lipoprotein cholesterol (LDL-C). Untreated patients often present with extensive xanthomas and marked premature atherosclerotic cardiovascular (ASCVD) before the age 20. Prior to advent statins extracorporeal LDL filtration techniques, survival beyond 30 years...

Homozygous deletions of recessive cancer genes and fragile sites are known to occur in human cancers. We identified 281 homozygous deletions in 636 cancer cell lines. Of these deletions, 86 were homozygous deletions of known recessive cancer genes, 17 were of sequenced common fragile sites, and 178 were in genomic regions that do not overlap known recessive oncogenes or fragile sites ("unexplai...