Search for dissertations about: "mutation frequency"

Showing result 21 - 25 of 151 swedish dissertations containing the words mutation frequency.

2. 21. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

   Author : Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

   Abstract : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. READ MORE

4. 22. Bacterial adaption to novel selection pressures

   Author : Annika Nilsson; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Evolution; bacterial adaptation; mutation rate; population size; mutation accumulation; fitness; antibiotic resistance; compensation; genetic drift; genome reduction;

   Abstract : The rates and trajectories of bacterial evolution are determined both by microbial factors and environmental parameters. In this thesis 1 have investigated how bacterial mutation rates and selection pressure affect the rate and extent of adaptation to novel environments. READ MORE

5. 23. Molecular studies in breast cancer susceptibility genes

   Author : Jindong Chen; Karolinska Institutet; Karolinska Institutet; []
   Keywords : familial breast cancer; breast cancer susceptibility gene; BRCA1; BRCA2; ATM; TP53; PTEN MMAC1; STK11 LKB1; gene mutation; mutation screening; LOH;

   Abstract : Breast cancer is the most common malignancy among women, with a cumulative risk of approximately 12% by the age of 85. Of the breast cancer cases, 5-10% are hereditary. READ MORE

6. 24. Germline CDKN2A/ARF alterations in human melanoma

   Author : Jamileh Hashemi; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Familial melanoma; germline mutation; CDKN2A; p16; p14ARF; cell cycle;

   Abstract : Approximately 10% of cases of human cutaneous malignant melanoma (CMM) have been estimated to occur in individuals with a familial predisposition, frequently in association with dysplastic nevus syndrome (DNS). The genetics of familial melanoma is complex and heterogeneous. To date only two melanoma predisposing genes have been identified. READ MORE

7. 25. Role of the CDKN2A and related cell cycle regulatory genes in melanoma and other human cancers

   Author : Johanna Smeds; Karolinska Institutet; Karolinska Institutet; []
   Keywords : CDKN2A; ARF; p53; cell cycle regulation; mutation; melanoma; esophageal squamous cell carcinoma;

   Abstract : The main objective of this thesis has been to investigate the involvement of the CDKN2A (p16INK4a and p14ARF) and related cell cycle regulatory genes in melanoma and other types of human cancer. The CDKN2A gene represents a unique locus in the entire human genome. READ MORE