Sökning: "SSCP"

Visar resultat 1 - 5 av 36 avhandlingar innehållade ordet SSCP.

  1. 1. Genetic variation in the folate receptor-alpha and methylenetetrahydrofolate reductase genes as determinants of plasma homocysteine concentrations

    Författare :Anna Böttiger; Torbjörn Nilsson; Henrik Zetterberg; Örebro universitet; []
    Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; Folate receptor-alpha; Folate; FOLR1; Haplotypes; Homocysteine; Methylenetetrahydrofolate reductase; MTHFR; Polymorphisms; Pyrosequencing®; SSCP; Medicine; Medicin; Biomedicin; Biomedicine;

    Sammanfattning : Elevated total plasma homocysteine (tHcy) is a risk factor for cardiovascular disease and neurocognitive disease such as dementia. The B vitamins folate and B12 are the main de terminants of tHcy. tHcy concentration can also be affected by mutations in genes coding for receptors, enzymes and transporters important in the metabolism of Hcy. LÄS MER

  3. 2. Molecular biological techniques as a tool in diagnostic pathology : Applications in B-cell lymphoproliferative disease, medullary thyroid carcinoma and cervical carcinoma

    Författare :Mansour Alemi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; PCR-SSCP; MTC; RET mutation; Lymphoma; HPV; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

    Sammanfattning : Identification of malignancy associated with mutations in gene sequences requires detection ofas little as a single base difference. A powerful technique in mutation detection is polymerasechain reaction (PCR) followed by single-strand conformational polymorphism (SSCP) andsequencing. LÄS MER

  4. 3. Search for Type 2 Diabetes Susceptibility Genes Using Multiple Approaches

    Författare :Cecilia Lindgren; Malmö Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; single nucleotide polymorphism SNP ; transmission-disequilibrium test TDT ; genetic variation; single strand conformational polymorphism SSCP ; gene expression; insulin; glucose; genome-wide scan; linkage; genetic association; Type 2 diabetes; early onset diabetes EOD ; sekretion; diabetologi; Endokrinologi; diabetology; Endocrinology; secreting systems; signal-to-noise ratio SNR ;

    Sammanfattning : Type 2 diabetes mellitus is a multifactorial disorder characterized by chronic hyperglycemia resulting from pancreatic dysfunction and insulin resistance. It is a common disorder with a complex pattern of inheritance, likely to reflect the influence of multiple genetic and environmental factors on the diabetes risk. LÄS MER

  5. 4. Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene

    Författare :Anne Birgitte Undén; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Basal cell carcinoma BCC ; carcinogenesis; in situ hybridization; linkageanalysis; gene; mutation; PCR; p53; PTCH; SHH; skin; SSCP; stromelysin 3 ST3 ; trichoepithelioma TE ; UVR.;

    Sammanfattning : Basal cell cancer (BCC) is the most common cancer in the Western world. Although BCCs hardly ever metastasize, invasive growth may cause considerable local tissue destruction. Ultraviolet radiation (WR) is presumed to be the predominant environmental factor. LÄS MER

  7. 5. Detection and analysis of genetic alterations in normal skin and skin tumours

    Författare :Åsa Sivertsson; KTH; []
    Nyckelord :single cell; DNA sequencing; p53; mutation; UV; BCC; pyrosequencing; malignant melanoma; N-ras;

    Sammanfattning : The investigation of genetic alterations in cancer-relatedgenes is useful for research, prognostic and therapeuticpurposes. However, the genetic heterogeneity that often occursduring tumour progression can make correct analysischallenging. LÄS MER