نتایج جستجو برای: mutations

تعداد نتایج: 172787  

A. Shakoori E. Darabi M.R. Noori Daloii N. Ebadi S. Mehrabi

The aim of this study was to examine the feasibility of using an economic and practical method in order to perform non-invasive prenatal testing of thalassemia as a sing gene disorder.Sixteen (16) pregnant mothers in the 11th week of pregnancy who were referred for prenatal diagnosis of thalassemia were selected. The parents had one of IVSII-1, IVSI-5 or FR codon 8/9 mutations. Enrichment of cf...

Elham Parsi Mehr, Hanieh Zare, Hossein Najmabadi, Maryam Beheshtian, Marzieh Mohseni, Mohammad Razzaghmanesh,

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

Background: Somatic mutations in the hotspot region of the DNA-methyltransferase 3A (DNMT3A) gene were recurrently identified in acute myeloid leukemia (AML). It is believed that DNMT3A mutations confer an adverse prognosis for AML patients. These lines of evidence support the need for a rapid and cost-efficient method for the detection of these mutations. The present study aimed to establish h...

Journal: :iranian journal of blood and cancer 0
morteza karimipour sirous zeinali edward graham tuddenham nafiseh nafissi manijeh lak peter green

background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr)...

آذر فام, پروین, اصغرزاده, محمد, امین بخش, محمد, حسینپورفیضی, عباسعلی, حسینپورفیضی, محمدعلی, پولادی, ناصر,

Introduction: β –Thalassaemia was first explained by Thomas Cooly as Cooly’s anaemia in 1925. The β- thalassaemias are hereditary autosomal disorders with decreased or absent β-globin chain synthesis. The most common genetic defects in β-thalassaemias are caused by point mutations, micro deletions or insertions within the β-globin gene. Material and Methods: In this research , 142 blood sampl...

E Fakhari , M Norouzi , SM Jazayeri ,

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 ...

Journal: :iranian journal of allergy, asthma and immunology 0
reza alibakhshi mahdi zamani

cystic fibrosis (cf) is the most common inherited disorder in caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (cftr) mutations. the type of mutations and their distributions varies widely between different countries and/or ethnic groups. seventy iranian cystic fibrosis patients were screened for the cftr gene mutation using arms/pcr (amplification refra...

Journal: :medical journal of islamic republic of iran 0
mr noori-daloii from the department of biochemistry, school of medicine, tehran university of medical sciences, tehran n moazami department of biotechnology, iranian research organization for science and technology, tehran m izadyar children s medical center, tehran university of medical science, tehran s farhangi queshm island medical center, queshm, islamic republic of iran f beyrami jamal department of biotechnology, iranian research organization for science and technology, tehran a atalay the marmara research center, gebze-kocaeli, torkey.

by application of modern recombinant dna technology, especially the polymerase chain reaction (pcr)/dot-blot hybridization techniques, we have investigated the molecular basis of β-thalassemia from four different regions of iran: central, south-east, south and north. in this study, the dna samples were isolated from patients and for the identification of the mutations, the 6 oligonucleotide pro...

Amin Raazi Atieh Mehdizadeh Hakkak, Azam Brook Hamid Reza Kianifar Jalil Tavakol Afshari, Mohammad Keramatipour Saeid Talebi

 Objective(s):  More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...

Mahmoud Haghighat, Mozhgan Moghtaderi, Shirin Farjadian,

Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. Methods: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common ME...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید