Sökning: "genetic markers"

Visar resultat 16 - 20 av 604 avhandlingar innehållade orden genetic markers.

1. 16. Genetic investigations of four neurological disorders : From phenotype to mutation

   Författare :Anna Sillén; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

   Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER

3. 17. Genetic studies of hypospadias

   Författare :Louise Frisén; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Hypospadias; genetic; complex trait; low birth weight; twin study; segregation analysis; genome-wide linkage analysis; mutation analysis; HOXA13 gene;

   Sammanfattning : Hypospadias is defined as an abnormal opening of the urethra on the underside of the penis. It is a frequently found malformation with an incidence of 3 per 1000 males. The aim of this thesis was to identify genetic and environmental factors in the pathogenesis of hypospadias. LÄS MER

4. 18. Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus : From Single Markers to Genome-Wide Data

   Författare :Johanna K Sandling; Ann-Christine Syvänen; Lovisa Lovmar; Joseph Terwilliger; Javier Martín Ibáñez; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic lupus erythematosus; Multiple Sclerosis; Association study; Type I interferon system; Single nucleotide polymorphism; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

   Sammanfattning : In autoimmune diseases an individual’s immune system becomes targeted at the body’s own healthy cells. The aim of this thesis was to identify genetic risk factors for the two autoimmune diseases multiple sclerosis (MS) and systemic lupus erythematosus (SLE). LÄS MER

5. 19. Milk Genomics – Impact of Genetic Polymorphism on Bovine Milk Composition and Processability

   Författare :Maria Glantz; Livsmedelsteknik; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; milk genomics; bovine milk; milk composition; technological properties; processability; cheese; quantitative genetic evaluation; single gene effect; genomic selection; genetic polymorphism; leptin; direct genomic value;

   Sammanfattning : Milk genomics is a new area of research that explores the relations between cow genetics and milk characteristics. Identifying the genes controlling compositional and technological traits of milk will give opportunities to select cows for targeted milk production. In this thesis, the impact of different genetic approaches, i.e. LÄS MER

7. 20. Modelling and genetic correction of liver genetic diseases

   Författare :Mihaela Zabulica; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The urea cycle is a set of biochemical reactions that converts highly toxic ammonia into urea for excretion. Deficiencies in any of the genes of the cycle can be life-threatening, with liver transplantation currently being the only definitive treatment. LÄS MER