Sökning: "Mutation detection"

Visar resultat 21 - 25 av 114 avhandlingar innehållade orden Mutation detection.

  1. 21. Droplet microfluidics for single cell and nucleic acid analysis

    Författare :Prem Kumar Periyannan Rajeswari; Helene Andersson Svahn; Håkan Jönsson; Martin Dufva; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Acoustophoresis; Biomarker detection; Cell behavior analysis; Cell factories; Droplet microfluidics; Droplet PCR; High throughput biology; Label-free enrichment; Single cell analysis; Bioteknologi; Biotechnology;

    Sammanfattning : Droplet microfluidics is an emerging technology for analysis of single cells and biomolecules at high throughput. The controlled encapsulation of particles along with the surrounding microenvironment in discrete droplets, which acts as miniaturized reaction vessels, allows millions of particles to be screened in parallel. LÄS MER

  3. 22. 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. 23. Mosaic loss of chromosome Y : methods for detection and consequences for affected leukocytes and men

    Författare :Marcus Danielsson; Lars A. Forsberg; Ståhl Patrik; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mosaic loss of chromosome Y; mLOY; somatic mosaicism; Medicinsk genetik; Medical Genetics;

    Sammanfattning : It has been known for centuries that men live shorter lives than women, but until recently, the biological mechanisms driving this sex bias has been poorly understood. Mosaic loss of chromosome Y (mLOY) refers to chromosome Y aneuploidy, a male specific and the most common somatic mutation in human blood cells. LÄS MER

  5. 24. Nucleic acid-based detection and characterization of hepatitis C virus

    Författare :Zhibing Yun; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :HCV; PCR; genotype; HVRI; heterogeneity; IFN-a; immunodeficiency;

    Sammanfattning : Nucleic acid-based methods were developed to detect and characterize the HCV genome in immunocompetent and immunodeficient patents of whom some were IFN-a treated. HCV RNA was found in most sera (95%), livers (97%) and PBMC (100%) of patients with confirmed chronic hepatitis, but also in sera (21%) of patients with indeterminate confirmatory antibody test, especially those with c22 antigen reactivity. LÄS MER

  7. 25. Prognostic role of tumour associated trypsin inhibitor in colorectal cancer patients

    Författare :Alexander Gaber; Tumörmikromiljö; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS mutation; ERK1 2; TATI; Colorectal cancer; Prognosis; Biomarker; EGFR; STAT3;

    Sammanfattning : Colorectal cancer (CRC) is one of the most common forms of human cancer worldwide with approximately 1 million new cases detected every year. CEA is currently the only accepted CRC marker incorporated into clinical practice, where it is used for early detection of metastasis in follow-up of patients having stage II and III disease, and for monitoring response to adjuvant treatment. LÄS MER