We have identified three unrelated individuals and three members of a family with the non-deletion form of Agamma-hereditary persistence of fetal hemoglobin (HPFH). Molecular analysis showed that each individual is a heterozygote for a previously described -195 Agamma (C-->G) mutation. The beta-globin gene cluster was studied using the polymerase chain reaction and related techniques. Haplotypi...

Background & Objective: Mutations in embB306 gene and their association with resistance to ethambutol (EMB) in Mycobacterium tuberculosis (M. tuberculosis) have not been fully investigated. The aim of this study was to investigate the point-mutations in emb306B gene and their association with resistance to EMB in M. tuberculosis. Materials & Methods: This case (M. tuberculosis resistant to EMB...

Materials and methods: The present study identified the abnormal hemoglobins associated with the beta-globin gene using different molecular genetic techniques following high performance liquid chromatography (HPLC) results. We studied 972 postnatal and 361 prenatal cases (total: 1333 cases, 2666 chromosomes) with the disorder from 1998 up to July 2008. DNA extraction from peripheral blood, chor...

abstract background thalassemia is common in the iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. the molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly locat...

Background and Aims: DNA methyltransferase3A (DNMT3A) is necessary for the adjustment of gene expression, and the mutations in the DNMT3A gene are reported in a variety of leukemia cases. DNMT3A mutations are during cancer progression and cause poor prognosis in many leukemias. Thus, this gene can be a target for new treatments. This study aimed to examine the distribution of DNMT3A mutations i...

background: clarithromycin resistance in helicbacter pylori has been found to be associated with point mutations in 23s rrna gene leads to reduced affinity of the antibiotic to its ribosomal target or changing the site of methylation. the aim of this study was to determine the most important point mutations in 23s rrna gene in h. pylori that are closely related to clarith-romycin resistance amo...

results our study showed that the sensitivity and specificity of taqman real time pcr was 96% and 95% respectively. these values were 89% and 90, 38% and 100%, 6% and 100% for pcr, culture and microscopy, respectively. conclusions our study showed that sensitivity of taqman real time pcr was higher that pcr, culture and microscopy but specificity of culture and microscopy was more than pcr and ...

A rapid nonradioactive approach to the diagnosis of sickle cell anemia is described based on an allele-specific polymerase chain reaction (ASPCR). This method allows direct detection of the normal or the sickle cell beta-globin allele in genomic DNA without additional steps of probe hybridization, ligation, or restriction enzyme cleavage. Two allele-specific oligonucleotide primers, one specifi...