Visar resultat 1 - 5 av 1051 avhandlingar innehållade ordet Genetik.
1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants
Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER
Sammanfattning : The clinical course of chronic lymphocytic leukemia (CLL) is highly heterogeneous, which has prompted the search for biomarkers that can predict prognosis in this disease. The IGHV gene mutation status and certain genomic aberrations have been identified as reliable prognostic markers of clinical outcome for this disorder. LÄS MER
Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER
Sammanfattning : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. LÄS MER
Sammanfattning : The aim of this thesis is to evaluate the effects of Quaternary environmental fluctuations on the present patterns of mitochondrial DNA variation in the wood lemming, Myopus schisticolor, and the two genera of Arctic lemmings: collared lemmings, Dicrostonyx, and true lemmings, Lemmus.The phylogeographic pattern and the limited mtDNA diversity in the Scandinavian populations of the wood lemming reflect recent colonization by a limited number of founders during the Holocene boreal forest expansion. LÄS MER