hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-κb signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here w...

background: non-dystrophic myotonias are a heterogeneous set of skeletal, muscular channelopathies, which have been associated with point mutations within sodium channel α-subunit (scn4a) gene. because exons 22 and 24 of scn4a gene are recognized as hot spots for this disease, the purpose of the study is to identify mutation in exons 22 and 24 of scn4a gene in iranian non-dystrophic myotonias p...

introduction : myeloproliferative neoplasms (mpns) are a group of clonal malignant hematologic disease, where the main and common members are; polycythemia vera (pv), primary myelofibrosis (pmf), and essential thrombocytosis (et). these group of diseases are able to be transformed into each other. methods:   this cross sectional study conducted the evaluation of jak2v161f mutation in dna in per...

glucose-6-phosphate dehydrogenase (g6pd) is a greatly polymorphic enzyme encoded by human x-linked gene. g6pd deficit is the most public enzymopathy in human with about 400 million people affected globally. it is the main controlling enzyme in the hexose monophosphate shunt catalase the oxidation of glucose-6-phosphate  to 6-phosphogluconolacton and the creation of reducing equals in the form o...

Background & Objective: FLT3-ITD mutation detection has been an integral part of diagnostic work ups focused on acute myeloid leukemia. However, some studies have indicated that the mutation is unstable during the various stages of the disease. The purpose of this study was to evaluate the stability of this marker in paired diagnosis-relapse samples using Delta-PCR method. Materials & Methods:...

Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...

taq dna polymerase is widely used in laboratories and for this reason many investigators have focused their attention on understanding the role of various regions and amino acids in this enzyme. o-helix is a part of taq polymerase suggested to play an important role in the enzyme fidelity. the influence of asn666 in this helix on the enzyme function has never been investigated, and therefore by...

background: pharmacogenomics is the study of genetic variations among individuals to predict the probability that a patient will respond to single or multidrug chemotherapy. breast cancer is one of the most common cancers among women worldwide. treatment of breast cancer by application of biological rationales gives us the ability to match the correct pharmacology to individual tumour genetic p...

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phenylketonuria (pku) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (pah) gene. pku has wide allelic heterogeneity. here we report a novel heterozygous substitution (c.1223g>t (p.arg408leu)) in the pah gene in an iranian pku family. the patient was 19-yr-old female with diagnosis of moderate...