Sökning: "allelic association"

Visar resultat 6 - 10 av 53 avhandlingar innehållade orden allelic association.

1. 6. Genetic association analysis of overlapping biological pathways in cardiovascular and Alzheimer disease

   Författare :Hagit Katzov; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Genetic variation; association; ACE; ABCA1; Alzheimer disease; pleiotropy; cardiovascular disease;

   Sammanfattning : To gain insight into the importance of the genome for diseases, sequencing and genotyping efforts aim to identify the consequences of genetic variation on both a functional and population level. The task involves the fine-resolution mapping of biologically significant genes and regions discerned by linkage analysis. LÄS MER

3. 7. Genetic susceptibility to cervical and gastric cancer

   Författare :Patrik Magnusson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; cervical cancer; gastric cancer; genetic susceptibility; familiality; heritability; HPV; Helicobacter pylori; genetic association; HLA; P53; loss of heterozygosity; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Sammanfattning : Cervical and gastric cancer both to a large extent depend on infectious agents. Cervical infection with human papilloma virus increases the risk for cervical cancer substantially, and infection with the bacteria Helicobacter pylori increases the risk for gastric cancer. LÄS MER

4. 8. Molecular and clinical genetic studies of a novel variant of familial hypercalcemia

   Författare :Eva Szabo; Jan Zedenius; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Surgery; hyperparathyroidism; calcium receptor; hypercalcemia; allelic loss; autosomal inheritance; Kirurgi; Surgery; Kirurgi; Kirurgi; Surgery;

   Sammanfattning : Familial primary hyperparathyroidism (HPT) is a rare disorder that is treated surgically and mostly occurs in association with tumor-susceptibility syndromes, like multiple endocrine neoplasia and the hyperparathyroidism-jaw tumor syndrome. Familial hypercalciuric hypercalcemia (FHH) is another cause of hereditary hypercalcemia that generally is considered to require no treatment and is genetically and pathophysiologically distinct from HPT. LÄS MER

5. 9. Genetic Variability in Human Bone Phenotypes : The Vitamin D Receptor Gene and the Estrogen Receptor-α Cofactor RIZ Gene

   Författare :Elin Grundberg; Andreas Kindmark; Östen Ljunggren; Helena Brändström; André G. Uitterlinden; Uppsala universitet; []
   Nyckelord :Medicine; Bone mineral density; candidate gene approach; polymorphism; the vitamin D receptor; the estrogen receptor α; RIZ1; cofactor; allelic imbalance; Medicin;

   Sammanfattning : Important candidate genes to human bone phenotypes are those involved in the regulation of hormonal action, such as the vitamin D receptor (VDR) and the estrogen receptor-α (ERα) genes and their cofactors. RIZ1 is a specific ERα cofactor proved to strongly enhance the function of the ERα. LÄS MER

7. 10. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

   Författare :Maritta Pigg; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. LÄS MER