Sökning: "Haplogroup"

Visar resultat 1 - 5 av 9 avhandlingar innehållade ordet Haplogroup.

  1. 1. The Human Y chromosome and its role in the developing male nervous system

    Författare :Martin M. Johansson; David Skuse; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MSY; sex differences; CNV; SNP; palindrome; palindromes; gr gr duplication; gr gr deletion; b2 b3 deletion; b2 b3 duplication; blue-grey duplication; blue-grey like duplication; IR2; U3; STS; AZFa; AZFb; AZFc; Olivary nucleus; Medulla oblongata; spinal cord; white matter; Affymetrix 6.0; embryo; embryonal; haplogroup; haplogroups; R1a; R1b; R-M207; E-M96; I-M170; J-M304; G-M201; Ashkenazi; Bolivian; Chinese; SNP array; padlock probing; AMY-tree; Biologi med inriktning mot zoologisk utvecklingsbiologi; Biology with specialization in Animal Development;

    Sammanfattning : Recent research demonstrated that besides a role in sex determination and male fertility, the Y chromosome is involved in additional functions including prostate cancer, sex-specific effects on the brain and behaviour, graft-versus-host disease, nociception, aggression and autoimmune diseases. The results presented in this thesis include an analysis of sex-biased genes encoded on the X and Y chromosomes of rodents. LÄS MER

  3. 2. Mitochondrial Genome Analysis Using Next Generation Sequencing for Forensic Applications

    Författare :Kimberly Sturk-Andreaggi; Marie Allen; Antti Sajantila; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Mitochondrial DNA; next generation sequencing; massively parallel sequencing; forensic genetics; nuclear mitochondrial DNA segment NUMT ; length heteroplasmy; haplogroup; quality control; population data; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

    Sammanfattning : Mitochondrial DNA (mtDNA) analysis plays a specialized role in forensic applications, overcoming certain limitations of autosomal DNA markers. The high copy number and uniparental inheritance pattern of mtDNA are advantageous in cases involving shed hairs and aged skeletal elements, especially decades-old missing persons cases. LÄS MER

  4. 3. Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples

    Författare :Maria Lembring; Marie Allen; Niels Morling; Uppsala universitet; []
    Nyckelord :Forensic genetics; Mitochondrial DNA; HVI HVII; Population database; Haplotype; Haplogroup; Ancient DNA; Historical DNA samples; skeletal remains; Vasa museum; Medieval samples; Copernicus; Göring; Genetik; Genetics;

    Sammanfattning : The mitochondrion is a tiny organelle that is the power supplier of the cell and vital to the functioning of the body organs. Additionally it contains a small circular genome of about 16 kb, present in many copies which makes the mitochondrial DNA more viable than nuclear DNA. LÄS MER

  5. 4. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Författare :Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  7. 5. Working Animals and Skeletal Lesions : Paleopathology of Cattle and Horse in Iron Age and Medieval Öland, Sweden

    Författare :Ylva Telldahl; Jan Storå; László Bartosiewicz; Stockholms universitet; []
    Nyckelord :HUMANIORA; HUMANITIES; Skeletal lesions; draught use of cattle; sacrificed horses; Iron Age; Middle Ages; Eketorp ringfort; Skedemosse wetland; Öland; sweden; osteoarkeologi; Osteoarchaeology;

    Sammanfattning : Central to this thesis is the relationship between animal husbandry practices and the associated pathological conditions. Since bone elements from the extremities are subjected to abnormal load when animals are put to hard work this research aims to go further and interpret the prevalence of varying lesions and their connection with animal husbandry by using methods such as osteometric analysis, conventional radiograpic and bone mineral study, as well as incorporated molecular analysis. LÄS MER