نتایج جستجو برای: mutations
تعداد نتایج: 172787 فیلتر نتایج به سال:
β-Thalassemia (β-thal) is the most common hereditary disease in Iran which has been the home to one of the world's oldest and major civilizations. Different ethnic groups and tribes live in Iran, and there are more than two million carriers of β-thal in Iran. In the last two decades, β-thal mutations have been investigated in several Iranian provinces. This ethnic/genetic heterogeneity has res...
Background To assess whether the C677T and A1298C mutations in the methylenetetrahydrofolate reductase (MTHER) gene are associated with recurrent abortion (RA), we determined the frequencies of the T677 and C1298 mutations in patients and controls. MaterialsAndMethods Mutations were determined by a RFLP-PCR method in 53 patients and 61 matched controls. Results The frequencies of T alleles were...
the aim of the current study is to amplification the regularity region encompassed the mutations changing the myostatin gene express and also to determine sequential analysis. the blood samples taken from 12 najdi cattles in najdi cattle station in shushtar city, khuzestan province. then the dna extracted to amplification 730bp and 561bp fragments. sequencing was performed after the precision i...
background and aims: lamivudine is amongst the antiviral for drug chronic hepatitis b treatment. during therapy with lamivudine, variants may emerge with ymdd mutation in the reverse transcriptase (rt) region of polymerase gene. this mutation might have a role in drug resistant for hbv. materials and methods: hbv dna extraction from serum sample of 88 patients, were subjected to nested pcr for ...
objective(s): as mitochondrial oxidative stress is probably entailed in atp production, a candidate modifier factor for the long qt syndrome (lqts) could be mitochondrial dna (mtdna). it has been notified that ion channels' activities in cardiomyocytes are sensitive to the atp level. materials and methods: the sample of the research was an iranian family with lqts for mutations by pcr-sscp...
the autism spectrum disorders (asd) are amongst the most heritable complex disorders. although there have been many efforts to locate the genes associated with asd risk, many has been remained to be disclosed about the genetics of asd. scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to asd. these only comprise a s...
β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in middle east, particularly in iran. in iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. therefore, detection and screening for couples at high risk can help to solve the problems of this disease. in this study, optimized genotyping of two com...
aim : the aim of the current investigation was to examine the profile of kras mutations accompanied with msi (microsattelite instability) status in polyps and colorectal carcinoma tissues in an iranian population. background : kras mutations in colorectal cancer cause resistance to anti-epidermal growth factor receptor (egfr). so it can be considered as a true indicator of egfr pathway activati...
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 loc...
we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. our results showed a similarity in the pattern...
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