نتایج جستجو برای: a3243g mutation
تعداد نتایج: 291433 فیلتر نتایج به سال:
Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...
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...
Background and Aim : Myeloproliferative neoplasms are clonal and heterogeneous disorders of hematopoietic stem cells lead to increase of one or more cell lines in the blood. Recently, the acquired mutation JAK2 V617F has been described in the majority of patients with myeloproliferative neoplasms (MPNs).This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the J...
Abstract Background & Aims:BRAF-V600E mutation has recently been considered as a molecular marker in diagnosis of Hairy Cell Leukemia (HCL). Detection of this mutation has found a diagnostic and therapeutic value. The aim of the present study was comparing the diagnostic value of BRAF V600E mutation detection with other previous methods in diagnosis of HCL patients. Materials & M...
An adenine-to-guanine mutation at nucleotide position (np) 3243 in the mitochondrial tRNALeu(UUR) gene is closely associated with various clinical phenotypes of diabetes mellitus. Because the mutation creates a new restriction site for the restriction enzyme ApaI, the mutation is usually detected and quantified by ApaI cleavage of the PCR products including np 3243. The sensitivity of the conve...
DNA studies in patients with Kearns‑Sayre syndrome and chronic progressive external ophthalmoplegia. We appreciate the readers' interest and their comprehensive comments and advice about the article, [1] which mainly concerned details of the patients' information. In this paper, we reported 19 Kearns‑Sayre syndrome (KSS) patients whose diagnoses were in accordance with the current clinical diag...
Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...
Background Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene were described in patients with Philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of present study was to investigate the fre...
Background : Familial Mediterranean fever (FMF) is an autosomal recessive disease, which is characterized by recurrent short episodes of inflammation in serous membranes. It is most prevalent in Western Mediterranean population. MEFV is the only gene currently known to be associated with this disease. Previous studies revealed that 6% of Iranian Jewish residents in Israel were carriers of MEFV ...
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