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...

introduction: the incidence of malignant melanoma is increasing at a rate greater than any other human cancer. although melanoma accounts for only 4 percent of all dermatologic cancers, it is responsible for 80 percent of deaths from skin cancer; only 14 percent of patients with metastatic melanoma survive for five years. the optimal therapy varies with the stage of the disease. surgical excisi...

mutation induction is considered as an effective way to enrich plant genetic variation, particularly fortraits with a very low level of genetic variation. this research was conducted to assess genetic variationinduced by gamma radiation in m2 and m3 mutant lines of canola (brassica napus l.) by ssr and morphologicalcharacteristics and to identify useful mutants in terms of agronomic traits. six...

how to cite this article: heidari mm , khatami m, pourakrami j. novel point mutations in frataxin gene in iranian patients with friedreich’s ataxia. iran j child neurol. 2014 winter; 8(1):32-36.   objective friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. more than 96% of patients are homozygous for gaa repeat extension on both alleles in the fi...