نتایج جستجو برای: point mutation
تعداد نتایج: 796715 فیلتر نتایج به سال:
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 ...
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 ...
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 ...
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...
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...
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...
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...
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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