نتایج جستجو برای: mutation analysis
تعداد نتایج: 3045422 فیلتر نتایج به سال:
Beta-thalassemia is one of the most common autosomal recessive disorders in the world population resulting from over 200 different mutations of HBB gene. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the HBB gene leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). High-resolution melting of polymerase chain reaction (PCR)...
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...
staphylococcus aureus carrying pvl gene remain major health problem associated with highly virulent infections. characterization of such gene is important to know the impact and the functional significance of nucleotide variations. pcr and standard sequencing were performed for twelve sudanese strains from different sources. protein structures prediction, modeling and physiochemical analysis we...
بررسی تنوع ژنتیکی مارکر rs438601در جمعیت اصفهان: یک مارکر آگاهیدهنده در تشخیصهای مولکولی هموفیلی B
Introduction: Hemophilia B is an X-linked recessive genetic disease caused by mutations in the coagulation Factor IX gene. Mutations in the Factor IX gene result in dysfunction or deficiency of coagulation factor of IX. Direct mutation analysis involves the ideal method for molecular diagnosis of the disease. However, due to the high number of identified mutations in the gen, the lack of a comm...
Background and purpose: Chemokines and their receptors are expressed in different types of malignancies. CC chemokines MIP-1a (CCL3), MIP-1b (CCL4) and RANTES (CCL5) is believed to be anti-tumor and also aid to the metastasis in tumor microenvironment. CCR2 and CCR5 are special G-protein receptors for these chemokines. Due to the important role of CCR5 chemokine receptor in tumor biology, this ...
Glucose-6-phosphate dehydrogenase (G6PD) enzyme catalyses the first step in pentose phosphate pathway (conversion of glucose-6-phosphat to 6-phospho gluconat) which provides cells with pentoses and reduction power in the form of NADPH. In the present study we have analyzed the G6PD gene mutations in 76 patients with a history of favism in Khorasan province in Iran. DNA samples were analyzed for...
Background and purpose: Breast Cancer is one of the health problems in every population. The aim of this study was to determine the frequency of BRCA1 and BRCA2 common mutations in women whose mothers were diagnosed with breast cancer. Materials and methods: A case–control study was performed in 109 females (less than 40 years of age) who had mothers with breast cancer. For scanning of...
Security has become, nowadays, a major concern for the organizations as the majority of its applications are exposed to Internet, which increases the threats of security considerably. Thus, the solution is to improve tools and mechanisms to strengthen the protection of applications against attacks and ensure the different security objectives. Among solutions we will talking about, in this paper...
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