Sökning: "DNA sequencing"

Visar resultat 21 - 25 av 511 avhandlingar innehållade orden DNA sequencing.

1. 21. Molecular genetics of human carbohydrate defined blood groups. Studies of the ABO and P blood group systems

   Författare :Rudi Steffensen; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ABO blood group system; P blood group system; carbohydrate antigen; DNA; sequencing; populations studies; expression studies;

   Sammanfattning : The aim of this study was to explore the molecular genetics of the carbohydrate defined blood group ABO and P systems.The blood group ABO system is the clinically most significant system in transfusion medicine. Using modern molecular biology, a number of the ABO alleles have been characterized. LÄS MER

3. 22. Genome sequencing. Analysis of pathogenicity factors in hereditary and bacterial diseases

   Författare :Joakim Westberg; KTH; []
   Nyckelord :genome sequencing; DNA sequencing; dye-terminator; solid-phase; de novo mutation detection; Mycoplasma mycoides subsp. mycoides SC; mycoplasma; CBPP; properdin; insertion sequence; ISMmy1;

   Sammanfattning : With a metal removal process based on precipitation aimed atthe purification of pulping effluent as a starting point, theinfluence of carboxylic acids on calcium carbonateprecipitation has been studied. The chosen carboxylic acids canact as more or less strong complexing agents for aqueouscalcium, just as many compounds found in pulping liquors. LÄS MER

4. 23. Mitochondrial Genome Analysis Using Next Generation Sequencing for Forensic Applications

   Författare :Kimberly Sturk-Andreaggi; Marie Allen; Antti Sajantila; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Mitochondrial DNA; next generation sequencing; massively parallel sequencing; forensic genetics; nuclear mitochondrial DNA segment NUMT ; length heteroplasmy; haplogroup; quality control; population data; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

   Sammanfattning : Mitochondrial DNA (mtDNA) analysis plays a specialized role in forensic applications, overcoming certain limitations of autosomal DNA markers. The high copy number and uniparental inheritance pattern of mtDNA are advantageous in cases involving shed hairs and aged skeletal elements, especially decades-old missing persons cases. LÄS MER

5. 24. Mitochondrial DNA in Sensitive Forensic Analysis

   Författare :Martina Nilsson; Marie Allen; Ulf Gyllensten; Antti Sajantila; Uppsala universitet; []
   Nyckelord :Genetics; Forensic genetics; Mitochondrial DNA; HVI HVII; Nuclear DNA; Quantification; Real-time PCR; Immobilised SSO probe assay; Pyrosequencing; Discrimination power; Coding region; Mixtures; Genetik;

   Sammanfattning : Genetic profiling is commonly performed on the autosomes using multiple DNA markers. Although routine forensic DNA analysis is robust and based on reliable technologies, samples with degraded or limited amounts of DNA often fail. In these cases, the analysis of mitochondrial DNA (mtDNA) can be very valuable due to the high copy number per cell. LÄS MER

7. 25. Analysis of genetic variations in cancer

   Författare :Johanna Hasmats; Joakim Lundeberg; Carsten Daub; KTH; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; Mutations; Variations; Single Nucleotide Polymorphism; DNA; RNA; Genome; Massively Parallel Sequencing; Exome Sequencing; Toxicity;

   Sammanfattning : The aim of this thesis is to apply recently developed technologies for genomic variation analyses, and to ensure quality of the generated information for use in preclinical cancer research.Faster access to a patients’ full genomic sequence for a lower cost makes it possible for end users such as clinicians and physicians to gain a more complete understanding of the disease status of a patient and adjust treatment accordingly. LÄS MER