Search for dissertations about: "deletions duplications"

Showing result 1 - 5 of 26 swedish dissertations containing the words deletions duplications.

  2. 1. Evolutionary aspects of the immunoglobulin heavy chain constant locus

    Author : Hodjatallah Rabbani; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The human Ig heavy chain constant locus (IGHC) is composed of nine functional and two pseudo genes. Extensive polymorphism consisting of deletions, duplications and point mutations have been observed in this locus. READ MORE

  4. 2. Variation in length of proteins by repeats and disorder regions

    Author : Rauan Sagit; Arne Elofsson; Andrey Kajava; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; protein length; repeats; domain repeats; protein evolution; duplication; tandem duplication; intrinsic disorder; intrinsically disordered; variation in length; insertion; deletion; recombination; expansion; contraction; Biochemistry; biokemi;

    Abstract : Protein-coding genes evolve together with their genome and acquire changes, some of which affect the length of their protein products. This explains why equivalent proteins from different species can exhibit length differences. READ MORE

  5. 3. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

    Author : Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. READ MORE

  6. 4. Patterns and Processes of Molecular Evolution in Rickettsia

    Author : Haleh Amiri; Dan Andersson; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Utvecklingsbiologi; Developmental biology; Utvecklingsbiologi; molekylärbiologi; Molecular Biology;

    Abstract : Species of the genus Rickettsia are obligate intracellular parasites of the a-proteobacterial subdivision. It has been suggested that obligate intracellular bacteria have evolved from free-living bacteria with much larger genome sizes. READ MORE

  7. 5. Molecular changes in the tumour suppressor genes p53 and CDKN2A/ARF in human urinary bladder cancer

    Author : Petra Berggren; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Urinary bladder neoplasm is the ninth most common cancer in Europe and the United States. The incidence in Sweden is approximately 32 for men and 9 for women per 105 subjects and year and almost all cases are transitional cell carcinoma (TCC). READ MORE