background: beta thalassemia gene mutations are among common mutations in southwest iran. however, hemoglobin e (hb e) and hb e/β⁰ thalassemia account for a small number of hemoglobinopathies in iran. this is the first study to directly address the existence of hb e and consequently hb e/β⁰ thalassemia in southwest iran. methods: this retrospective study discovered seven cases of hb e/β⁰ thalas...

BACKGROUND The interaction of the non-deletional α(+)-thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the...

We have developed a novel double Amplification Refractory Mutation System (double ARMS) using a highly polymorphic region 5' to the human delta-globin gene as a model system. The double ARMS approach involves using two allele-specific ARMS primers simultaneously during DNA amplification by the polymerase chain reaction (PCR). The resulting system is highly sensitive and more specific than singl...

BACKGROUND In patients with Wilson's disease (WD), an autosomal recessive disorder, toxic accumulation of copper results in fatal liver disease and irreversible neuronal degeneration. ATP7B, the gene mutated in WD, contains 21 exons and encodes a copper transporting ATPase. A novel disease causing mutation (4193delC) in exon 21 of the ATP7B gene has previously been detected by heteroduplex anal...

Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of the...

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...

Gene therapy offers the potential of correcting genetic disorders such as cystic fibrosis (CF). By complementing the non-functional endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene with a functional transgene, we anticipate it may alleviate the disease phenotype. All approaches to CF gene therapy rely upon sensitive assays to monitor delivery, expression and maintenanc...