Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 113 for “"Sanger sequencing"”.
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Mitochondrial Dna Analysis By Pyrosequencing
… method used to evaluate mitochondrial DNA is Sanger sequencing. Although robust, it is also time consuming and labor intensive, on the other hand pyrosequencing is a nonelectrophoretic, rapid, reliable, and sensitive sequencing method which can be easily automated. Therefore pyrosequencing …
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Investigation into the genetic variation of Toll-Like Receptor 9 in cattle using both Sanger and next-generation sequencing from FTA-Cards
… fragment of the bovine TLR9 gene. Subsequently, Sanger sequencing and Next Generation Sequencing (NGS) approaches validated the existence of genetic variation across a 554 bp region of exon 2 (f1TLR9) of the bovine TLR9 gene. Moreover, our data revealed that there is no significant correlation …
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Population genetics of the endemic red-chested sea cucumber, Hemiocnus insolens, along the southern coastline of Africa
… genomic markers of each colour variation using Sanger sequencing and metagenomic sequencing to analyse their phylogenetic and associated community structure to delimit whether the colour variations of H. insolens are a single species or a possible species complex. DNA was extracted from tissue …
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Tp53 As A Biomarker In Head and Neck Squamous Cell Carcinoma
… of surgery. TP53 mutations were identified using Sanger sequencing of exons 2-11 and the associated splice regions of the TP53 gene. We have found that the group of patients with either non-disruptive or disruptive TP53 mutations had decreased overall survival, disease-free survival, and an …
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Determination of the frequency of four pathogenic variants causing inborn errors of metabolism in the western cape black population, using a multiplexed arms pcr approach
… to screen a cohort of 750 samples, followed by Sanger sequencing to confirm findings in positive cases. Results: Individual PCR reactions performed well for all primer pairs at 54°C annealing temperature. Attempts to combine all four primer sets into a single multiplex reaction repeatedly …
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The Genetic Aetiology of Ectopic Maxillary Canine Teeth
… with seven affected members. 3. Whole exome sequencing was carried out on two distantly related affected members of this family, common, novel and rare variants being identified. 4. The exons and intron-exon junctions of the candidate genes were sequenced using Sanger sequencing in the family …
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Towards cloning of a novel SCN resistance locus using de novo genome assembly and fosmid screening
… of 147kb. Through the use of whole genome sequencing with de novo assembly we were able to gain information about the region. In this thesis the assembly data was used along with fosmid sequences from both Sanger sequencing and Illumina reads to gain insight into sequence differences …
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Epidemiology of extended spectrum beta-lactamase and carbapenemase-producing bacteria in stool from apparently healthy children, South Africa
… conventional polymerase chain reaction and Sanger sequencing. Risk factors were assessed by univariate analysis using the EPI Info version 7 software.
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Mining common genetic Variants impacting on Allele-Specific Translation and cancer risk
… and a p53 target. Polysomal profiling and Sanger sequencing revealed a higher abundance of the reference T allele in polysome-associated versus total RNA fractions of TA heterozygous cells, suggesting the two alleles exhibit a difference in translational efficiency. CRISPR/Cas9-mediated …
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Evaluation of TP53 and IGHV clinical molecular prognostic testing for patients with Chronic Lymphocytic Leukaemia at Tygerberg Hospital
… analysis was determined via bi-directional Sanger Sequencing of PCR-amplified complementary DNA (cDNA) obtained from reverse transcription of extracted total ribonucleic acid (RNA), targeting exons 2 to 11 of the entire coding region. IGHV mutational status was assessed using a two-step …
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Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
… mutation using High Resolution Melt and Sanger sequencing. The genetic results indicated that 65.2% (30/46) of the family members harbored this mutation. High Resolution Melt, Sanger sequencing and microsatellite typing were used to create a haplotype which encompassed the c.1162C>T …
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The molecular genetics of familial cardiomyopathy
… mechanisms. Methods Through next generation sequencing techniques such as whole exome sequencing and targeted resequencing we studied three South African families with severe cardiomyopathy. Clinical diagnosis and recruitment of cardiomyopathy patients into the study was done at Groote Schuur …
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Identification and characterisation of a novel antimicrobial peptide from the defensive skin secretion of the Heilongjiang brown frog, Rana amurensis
… by the combination of molecular cloning and Sanger sequencing. Then bioactivity of the peptide was evaluated through using antimicrobial assays, antiproliferative assays and haemolysis assay. It was found to inhibit the growth of E. coli (MIC=2µM), S. aureus (MIC=16µM), and C. albicans …
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Identification and functional assessment of a bioactive peptide QUB-2984 from the skin secretion of the red-eyed tree frog, Agalychnis callidryas
… library with isolated mRNA, and tested by DNA Sanger sequencing. It was synthesised by solid phase peptide synthesis, purified by reversed-phase high-performance liquid chromatography and structurally-confirmed by MALDI-TOF MS. The MIC value against gram-positive bacteria S.aureus was 2μM, …
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Discovery and functional evaluation of a host defense peptide from Rana amurensis
… established through molecular cloning and Sanger sequencing, and the mature peptide sequence of the active form, QUB-2566 (GVLKGVGKNVSGSLLHQLKCLISGGC), was deduced from the cloned cDNA. Thereafter, the corresponding synthetic peptide was obtained by solid-phase Fmoc synthesis, and its …
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Identificazione di una variante missenso nel gene RBM10 in una famiglia sarda con disabilità intellettiva X-linked
… Large-scale next generation exome resequencing of X chromosome genes detected a rare missense variant (c.995G>A, p.Arg332His) located within a highly conserved domain in the RBM10 gene at Xp11.23. Sanger sequencing confirmed the presence of the variant in affected males and in their …
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A Rapid Colorimetric Peptide Nucleic Acid Loop-Mediated Isothermal Amplification Assay for the Detection of the IDH1 Mutation in Glioblastoma
… suggests that the assay is more sensitive than Sanger sequencing – the gold standard for <em>IDH1</em> mutation identification. This study is the first to attempt to develop a colorimetric LAMP assay for GBM tumor characterization, and only the third application of the PNA-LAMP method to detect …
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Molecular cloning, peptide synthesis and bioactive assessment of a skin defensive peptide, QUB-2658 from the skin secretion of <i>Limnonectes fujianensis</i>
… was obtained using molecular cloning and Sanger Sequencing. The mature peptide was synthesized by solid phase peptide synthesis, identified and purified by MALDI-TOF mass spectrometry and reverse phase High Performance Liquid Chromatography. Data from antibacterial and anticancer assays …
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Studies on approaches for sequencing cytosine modifications and the identification of their protein readers
… great academic and clinical interest. A suite of sequencing methods allows base-resolution detection of all known cytosine modifications, but such approaches are often destructive and error-prone due to subtractive analysis of multiple experiments. Proteins binding cytosine modifications often …
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The Last Stand of Angraecum: Biogeographic and Evolutionary History of Darwin's Muses
… on a limited number of markers derived from Sanger sequencing have proved to be insufficient for informing the construction of such a classification. Using Angiosperms353, a target sequence capture probe set, hundreds of low-copy nuclear genes were sequenced from a broad sampling of …
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