Sökning: "SNP"

Visar resultat 36 - 40 av 357 avhandlingar innehållade ordet SNP.

  1. 36. Genetic studies of diabetes in northern Sweden

    Författare :Sofia Mayans; Dan Holmberg; Mats Eliasson; Outi Vaarala; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diabetes; families; genetic; association; SNP; linkage; TCF7L2; CTLA-4; Calpain-10; Medical genetics; Medicinsk genetik;

    Sammanfattning : Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. LÄS MER

  3. 37. Quantitative analysis of disease associated mutations and sequence variants

    Författare :Charlotta Olsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; Clinical genetics; Klinisk genetik; Molecular Medicine; molekylär medicin genetik och patologi ;

    Sammanfattning : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. LÄS MER

  4. 38. Analysis of the origin and spread of the domestic dog using Y-chromosome DNA and mtDNA sequence data

    Författare :Mattias Oskarsson; Peter Savolainen; Ben Sacks; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; mtDNA; domestication; Y-chromosome; SNP; ASY; dog; dingo;

    Sammanfattning : The domestic dog was probably the first domesticated animal, and the only one to spread to all continents in ancient times. The dog is one of the most phenotypically diverse animals, a result of human selection throughout dog history. LÄS MER

  5. 39. A multivariate approach to computational molecular biology

    Författare :Fredrik Pettersson; Michael Sjöström; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; PLS; PCA; biomarker; Drosophila; SNP; linkage; disequilibrium; bioinformatics; computational; molecular; biology; genomics; microarray; SELDI; proteomics; Bioinformatics; Bioinformatik;

    Sammanfattning : This thesis describes the application of multivariate methods in analyses of genomic DNA sequences, gene expression and protein synthesis, which represent each of the steps in the central dogma of biology. The recent finalisation of large sequencing projects has given us a definable core of genetic data and large-scale methods for the dynamic quantification of gene expression and protein synthesis. LÄS MER

  7. 40. Molecular Etiology of Graves’ Disease and Associated Ophthalmopathy

    Författare :Tereza Planck; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; association study; Graves’ disease; Graves’ ophthalmopathy; immediate early genes; inflammation; adipogenesis; thyrostimulin; BTG2; CYR61; COX2; ZFP36; gene expression; SCD; SNP;

    Sammanfattning : Graves' disease (GD) is a complex autoimmune disorder characterized by hyperthyroidism and diffuse goitre. 25-50% of the patients with GD develop eye symptoms, Graves' ophthalmopathy (GO). The overall aim of this thesis was to explore the molecular etiology of GD and GO. LÄS MER