Sökning: "genetics."

Visar resultat 21 - 25 av 1478 avhandlingar innehållade ordet genetics..

1. 21. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

   Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

   Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER

3. 22. The Effects of Mutation and Selection on the Rate and Pattern of Molecular Evolution in Birds

   Författare :Sofia Berlin; Hans Ellegren; Adam Eyre-Walker; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; substitution rate; diversity; selection; male mutation bias; birds; Genetik; Genetics; Genetik;

   Sammanfattning : By comparing sequence diversity and divergence on sex chromosomes one can study how the rate of evolution in affected by mutation and/or selection. The rate of mutation in male biased, meaning that relatively more mutations are created in the male germ line than in the female. LÄS MER

4. 23. The Functional Significance and Chromatin Organisation of the Imprinting Control Regions of the H19 and Kcnq1 Genes

   Författare :Meena Kanduri; Rolf Ohlsson; Karl Ekwall; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA methylation; Imprinting control region; Chromatin; Insulator; Nucleosome positioning; Genetik; Genetics; Genetik;

   Sammanfattning : Genomic imprinting is a phenomenon through which a subset of genes are epigenetically marked during gemtogenisis. This mark is maintained in the soma to often manifest parent of origin-specific monoalleleic expresson patterns. LÄS MER

5. 24. Postglacial Population History of the Common Shrew (Sorex araneus) in Fennoscandia : Molekylära studier av återkolonisation, könsbundet genflöde och kromosomrasbildning

   Författare :Anna-Carin Andersson; Håkan Tegelström; Cecilia Alström-Rapaport; Jeremy B Searle; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Sorex araneus; chromosome race; postglacial recolonisation; hybrid zone; sex-biased gene flow; chromosomal evolution; Genetik; Genetics; Genetik;

   Sammanfattning : The common shrew, Sorex araneus, has one of the most variable karyotypes among mammals, displaying numerous chromosomes races throughout its distribution, which can be categorized into different karyotypic groups. The objective of this thesis was to examine the postglacial population history of Fennoscandian common shrews using autosomal microsatellites, mitochondrial DNA (mtDNA) and a Y chromosome specific microsatellite (L8Y). LÄS MER

7. 25. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

   Författare :Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

   Sammanfattning : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. LÄS MER