نتایج جستجو برای: point mutation

تعداد نتایج: 796715  

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پزشکی 1390

انمی داسی شکل و ا نمی کولی جز شایع ترین بیماریهای وراثتی در انسان ها در سرتاسر دنیا بوده که هزینه های درمانی هنگفتی را بر بیماران و سیستم بهداشتی کشورها می گذارد. انمی داسی شکل اولین اختلال ژنتیکی بوده که در حدود 58 سال پیش مکانیسم ژنتیکی اش توصیف شده و اختلالش ناشی از یک point mutation در زنجیره بتای همو گلوبین می باشد که سبب dysfunction پروتین هموگلوبین شده و عامل عوارض بالینی در مبتلایان می ...

Journal: :avicenna journal of clinical microbiology and infection 0
saeed tajbakhsh department of microbiology and parasitology, faculty of medicine, bushehr university of medical sciences, bushehr, ir iran; the persian gulf tropical medicine research center, bushehr university of medical sciences, bushehr, ir iran; department of microbiology and parasitology, faculty of medicine, bushehr university of medical sciences, bushehr, ir iran. tel: +98-9177746164, fax: +98-7733320657 jamal falahi department of microbiology and parasitology, faculty of medicine, bushehr university of medical sciences, bushehr, ir iran niloofar motamed department of community medicine, faculty of medicine, bushehr university of medical sciences, bushehr, ir iran seyed masoud tabib department of internal medicine, faculty of medicine, bushehr university of medical sciences, bushehr, ir iran abbas bahador department of microbiology, school of medicine, tehran university of medical sciences, tehran, ir iran somayyeh gharibi the persian gulf tropical medicine research center, bushehr university of medical sciences, bushehr, ir iran

results of the 135 h. pylori-positive specimens, two harbored strains with the a2143g mutation and nine contained strains with the a2144g mutation. thus, the prevalences of the a2143g and a2144g point mutations were 1.5% and 6.7%, respectively. the a2143c point mutation was not found. conclusions the prevalences of the point mutations a2143g and a2144g were low in our geographic area. based on ...

Journal: :iranian journal of basic medical sciences 0
azadeh lohrasbi nejad department of biotechnology, research institute for environmental sciences, international centre for science, high technology and environmental sciences, kerman, iran mohammad mehdi yaghoobi department of biotechnology, research institute for environmental sciences, international centre for science, high technology and environmental sciences, kerman, iran

objective(s) p53 is an important tumor suppressor, which is mutated in later stages of many cancers and leads to resistance to chemotherapy. the aim of this study was to reveal mutations of tp53 in colorectal cancer in kerman province. materials and methods a total of forty-three colon cancer specimens as paraffin block or fresh tissues, which passed stage iiia, were selected. three exons 5, 7 ...

Journal: :iranian journal of parasitology 0
hr. shokrani department of parasitology, faculty of veterinary medicine, university of tehran, iran. p. shayan department of parasitology, faculty of veterinary medicine, university of tehran, iran. a. eslami department of parasitology, faculty of veterinary medicine, university of tehran, iran. r. nabavi department of parasitology, faculty of veterinary medicine, university of zabol, iran.

b ackground: due to the lack of a suitable and economic test for the analysis of the polymorphism at codon 167, we developed a new pcr-rflp technique, based on a modified forward primer (ut- hc167 mf-primer), to identify simultaneously the snps at codons 167 and 200 of isotype 1 β-tubu- lin gene of haemonchus contortus . m ethods: there already are several safe and easy methods for identificati...

Journal: :Indian Journal of Hematology and Blood Transfusion 2010

Journal: :international journal of hematology-oncology and stem cell research 0
fatemeh nadali pathology department, school of medicine, isfahan university of medical sciences, isfahan, iran sh ferdowsi school of allied health sciences, tehran university of medical sciences, tehran, iran p karimzadeh school of allied health sciences, tehran university of medical sciences, tehran, iran bahram chahardouli hematology-oncology and bmt research center, shariati hospital, tehran university of medical science, tehran, iran n einollahi school of allied health sciences, tehran university of medical sciences, tehran, iran sa mousavi hematology-oncology and bmt research center, shariati hospital, tehran university of medical science, tehran, iran

jak2 is a tyrosine kinase that plays an important role in the signaling pathways of many hematopoietic growth factor receptors. a single acquired point mutation – v617f – in jak2 occurs in the great majority of patients with polycythemia vera (pv) and approximately half of the patients with idiopathic myelofibrosis (imf) or essential thrombocythemia (et). in contrast, the jak2-v617f mutation is...

درویش‌زاده, فرزانه , سلطان‌دراج, قمر , لاریجانی, باقر , هوشمند, مسعود ,

Background: Mitochondria is one of the intracellular organelle with specific DNA. Some diseases caused by mtDNA mutations have been reported up to now. Mutation of A3243G and deletion of 5kb are two of them that related to Diabetes type II. The aim of this study was to evaluate the frequency of A3243G mutation and 5kb mt DNA deletion in type II diabetic patients.Methods: The DNA extracted from...

Journal: :journal of research in medical sciences 0
mahdiyeh behnam shin jin-hong dae-seong kim keivan basiri yalda nilipour maryam sedghi

hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...

Nastaran Asghari Moghaddam

P53 tumor suppressor gene, also known as “genome guardian” is mutated in more than half of allkind of cancers. In this study we have investigated the controls of environmental pH for P53 genemutation in point of specific sequence which is prone to mutagenesis. The most probable cancerousmutations occur as point mutations in exons 5-8 of P53 gene. The 175th codon of P53 is the thirdmost mutated ...

Background & Objective: Mutations in embB306 gene and their association with resistance to ethambutol (EMB) in Mycobacterium tuberculosis (M. tuberculosis) have not been fully investigated. The aim of this study was to investigate the point-mutations in emb306B gene and their association with resistance to EMB in M. tuberculosis. Materials & Methods: This case (M. tuberculosis resistant to EMB...

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