Sökning: "genotype phenotype relationships"
Visar resultat 1 - 5 av 11 avhandlingar innehållade orden genotype phenotype relationships.
1. Drug metabolic capacity in Koreans : CYP2D6 & CYP2C19 pheno- and genotype relationships in healthy volunteers and in patients
Sammanfattning : This thesis aimed to investigate the relationship between pheno- and genotype of two drugmetabolizing enzymes CYP2D6 and CYYP2C19 in Koreans. Population studies were conducted in healthy volunteers to obtain basic information on these two enzymes. LÄS MER
2. Functional and structural studies on CYP21 mutants in congenital adrenal hyperplasia
Sammanfattning : Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. A defect in the gene encoding steroid 21-hydroxylase, CYP21, results in impaired synthesis of cortisol and in most cases also aldosterone. LÄS MER
3. Genetic and Genomic Studies in Chicken : Assigning Function to Vertebrate Genes
Sammanfattning : A major challenge in the post-genomic era is to understand how genome sequence variants (genotype) give rise to the enormous diversity observed in terms of morphology, physiology and behavior (phenotype) among living organisms. Domestic animals—with their tremendous phenotypic variation—are excellent model organisms for determining the relationships between genotype and phenotype. LÄS MER
4. Immunogenetics of Type 1 diabetes and Celiac disease
Sammanfattning : AbstractThe primary purpose of understanding disease etiology is to explain how a specific phenotype is determined by genotype. In pursue of this aim, exploring the diversity in DNA sequence variants that affect biomedical traits, especially those related to the onset and progression of genetically determined human disease. LÄS MER
5. Microfluidics and AI for single-cell microbiology
Sammanfattning : Most of the biological sciences deal with understanding the relationships between phenotypes and the underlying molecular mechanisms of organisms. This thesis is an engineering, computational, and experimental exercise in expanding the scope and scale of phenotype-genotype mapping techniques in single-cell microbiology using microscopy, microfluidics, and image processing. LÄS MER