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  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. Genetics and Labor Pain Behavior

    Författare :Fatimah Dabo Pettersson; Helena Åkerud; Inger Sundström Poromaa; Fred Nyberg; Pelle Lindqvist; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; anxiety; beta-endorphin; depressed mood; GCH1; labor analgesia; labor pain; OPRM1; SNP; Obstetrik och gynekologi; Obstetrics and Gynaecology;

    Sammanfattning : Labor may perhaps be the most painful a woman might experience, although characterized by large inter-individual variability. The perceived pain during labor is the result of diverse factors, i.e. her previous pain experiences, the analgesia she receives and maybe also her genes. LÄS MER

  4. 3. Microfluidic bead-based methods for DNA analysis

    Författare :Aman Russom; Ulf Gyllensten; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; single nucleotide polymorphism; DNA analysis; SNP; microfluidics; pyrosequencing; beads; lab on a chip; hybridization; DASH; microsystem; micro totat analysis system; allele-specific extension; DASH; microcontact printing; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : With the completion of the human genome sequencing project, attention is currently shifting toward understanding how genetic variation, such as single nucleotide polymorphism (SNP), leads to disease. To identify, understand, and control biological mechanisms of living organisms, the enormous amounts of accumulated sequence information must be coupled to faster, cheaper, and more powerful technologies for DNA, RNA, and protein analysis. LÄS MER

  5. 4. Evaluation of New Technologies for Forensic DNA Analysis

    Författare :Anna-Maria Divne; Marie Allen; Joakim Lundeberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; STR; SNP; SIDS; mtDNA; HVI HVII SSOP linear array; minisequencing; tag arrays; Pyrosequencing; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : DNA samples from crime scenes or mass disasters are often limited and degraded which limits the possibility of successful traditional STR analysis. Moreover, there is a need to decrease the turnaround time in criminal investigations. LÄS MER

  7. 5. Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases

    Författare :Snaevar Sigurdsson; Ann-Christine Syvänen; Timothy Behrens; Uppsala universitet; []
    Nyckelord :Molecular medicine; Minisequencing; SNP; Microarray; Polymorphism; Mitochondria; Systemic Lupus Erythematosus; Rheumatoid Arthritis; Association study; Type I interferon; Genotyping; Molekylärmedicin;

    Sammanfattning : Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation. We developed a novel multiplexed method for SNP genotyping based on four-color fluorophore tag-microarray minisequencing. This method allows simultaneous genotyping of 80 samples and up to 200 SNPs in any allele combination. LÄS MER