Sökning: "Single Nucleotide"

Visar resultat 16 - 20 av 437 avhandlingar innehållade orden Single Nucleotide.

1. 16. Microfluidic bead-based methods for DNA analysis

   Författare :Aman Russom; Ulf Gyllensten; KTH; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; single nucleotide polymorphism; DNA analysis; SNP; microfluidics; pyrosequencing; beads; lab on a chip; hybridization; DASH; microsystem; micro totat analysis system; allele-specific extension; DASH; microcontact printing; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : With the completion of the human genome sequencing project, attention is currently shifting toward understanding how genetic variation, such as single nucleotide polymorphism (SNP), leads to disease. To identify, understand, and control biological mechanisms of living organisms, the enormous amounts of accumulated sequence information must be coupled to faster, cheaper, and more powerful technologies for DNA, RNA, and protein analysis. LÄS MER

3. 17. Reproductive Factors and Breast Cancer - Parity, Breastfeeding and Genetic Predisposition in Relation to Risk and Prognosis

   Författare :Salma Butt; Kirurgi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; subgroups; stage; survival; Breast cancer risk; parity; nulliparity; multiparity; breastfeeding; age at first birth; single nucleotide polymophisms;

   Sammanfattning : The aim of this thesis was to study reproductive factors and genetic polymorphisms in relation to breast cancer risk and survival. An important component of this was to investigate the risk of specific breast cancer subgroups. LÄS MER

4. 18. Development and Application of Genomic Resources in Non-model Bird Species

   Författare :Biao Wang; Jacob Höglund; Christopher Wheat; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; genome; transcriptome; next generation sequencing; non-model species; bioinformatics; reference guided assembly; RNA-Seq; comparative genomics; gene expression; major histocompatibility complex; single nucleotide polymorphism; microsatellite; Biologi; Biology;

   Sammanfattning : Understanding the genetic basis of biological processes is a fundamental component of modern ecology and evolutionary biology studies. With the recent advent of next generation sequencing (NGS) technologies, it is now possible to perform large genome and transcriptome projects for ecologically important non-model species. LÄS MER

5. 19. Early diagnosis and treatment of prostate cancer : observational studies in the National Prostate Cancer Register of Sweden and the Västerbotten Intervention Project

   Författare :Benny Holmström; Pär Stattin; Håkan Jonsson; Mattias Johansson; Gunnar Aus; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Prostate cancer; prostate-specific antigen; single nucleotide polymorphism; Urology and andrology; Urologi och andrologi; Urology; kirurgi; särskilt urologi;

   Sammanfattning : Prostate-specific antigen (PSA) testing has caused a steep increase in the incidence of prostate cancer, especially the incidence of localised low risk disease. In order to decrease the overdiagnosis accompanied by PSA testing, analysis of inherited genetic variants have been suggested as potential tools for clinical assessment of disease risk. LÄS MER

7. 20. Beta Cell Function: from Human Genetics to Animal Models

   Författare :Martins Kalis; Diabetes - immunovirologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; animal model; Dicer1; genetics; genetic association; single nucleotide polymorphism; SNP; INS-1E; AAT; FOXP3; beta cell function; insulin secretion; FFAR1; insulin; T2D; glucose; T1D;

   Sammanfattning : Beta cell function is an important factor in the development of both Type 1 (T1D) and Type 2 (T2D) diabetes mellitus. T1D is characterized by a primary defect in insulin secretion due to the immune-mediated beta cell destruction, however, the more common T2D beside insulin resistance also include impaired beta cell function as a consequence to abnormal glucose homeostasis. LÄS MER