background and aims: this research aimed to study a possible link between endometriosis and polymorphism of the progesterone receptor gene. materials and methods: the control group consisted of 86 women without endometriosis and the case group comprised 86 patients with a diagnosis of endometriosis by laparoscopy. genotypes for alu insertion polymorphisms (a1/a1, a1/a2 and a2/a2) were described...

Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority. Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR)...

We describe a simple approach for detecting beta-thalassemia mutations in geographic areas such as southern China where multiple mutations are known to occur. Segments of the beta-globin gene were amplified in vitro by using the polymerase chain reaction. Dot blot hybridization of the amplified DNA with oligonucleotide probes corresponding to the six mutations found in southern China could dire...

Increased fetal hemoglobin (HbF) in b-globin gene disorders ameliorates the clinical symptoms of the underlying disease. 5-azacytidine, butyrate and hydroxyurea, have been shown to activate g-globin gene expression. It has also been found that hematopoietic growth factors can influence expression of g-globin in erythroid cultures and in animal models. This study was designed to evaluate the in ...

DGGI The detection and identification of point mutations responsible for common human genetic diseases still represent a major technical problem especially when analysing genes with a large coding region or a heterogeneous spectrum of mutations or both. Before the advent of the polymerase chain reaction (PCR) this problem could be partially circumvented by the identification of haplotypes of re...

OBJECTIVE The diverse clinical phenotype of hemoglobin E (HbE)/β-thalassemia has not only confounded clinicians in matters of patient management but has also led scientists to investigate the complex mechanisms involved in maintaining the delicate red cell environment where, even with apparent similarities of α- and β-globin genotypes, the phenotype tells a different story. The BTB and CNC homo...

Beta-thalassemia is one of the most common autosomal recessive disorders in the world population resulting from over 200 different mutations of HBB gene. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the HBB gene leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). High-resolution melting of polymerase chain reaction (PCR)...

conclusions obtained data demonstrated that the designed assay is an accurate, easy, rapid, and cost-effective tool for detecting v. cholerae that can serve as an alternate to current bacteriological tests. background several epidemic and endemic cases have been reported involving vibrio cholerae (v. cholerae) as a causative organism in serious diarrheal diseases with high mortality. hence, qui...

BACKGROUND Co-inheritance of β- and δ-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of α- and β-thalassemia in screening programs. Here we report the co-inheritance of β- and δ-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A₂ (HbA₂) level. METHODS Genomic DNA extraction, ampl...

Denaturing gradient gel electrophoresis (DGGE) can be used to distinguish two DNA molecules that differ by as little as a single-base substitution. This method detects approximately 50% of all possible single-base changes in DNA fragments ranging from 50 to approximately 1000 base pairs. To increase the number of single-base changes that can be distinguished by DGGE, we used the polymerase chai...