Sökning: "clinical genetics"

Visar resultat 21 - 25 av 525 avhandlingar innehållade orden clinical genetics.

  1. 21. Genotyping RNA and DNA using padlock probes

    Författare :Dan-Oscar Antson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Padlock probe; enzymatic synthesis; PCR; in situ hybridization; RNA-templated DNA ligation; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Novel techniques are needed to investigate the genetic variation revealed in the first draft of the human genome sequence. Padlock probes are recently developed reagents, suitable for detecting single-nucleotide variations of DNA and RNA in situ or in solution. LÄS MER

  3. 22. Nuclear Organization of Gene Expression in Adenovirus Infected Cells

    Författare :Anders Aspegren; Lars Wieslander; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Adenovirus; mRNA; transport; IGCs; E434kDa; E1B55kDa; NES; snRNP; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Adenovirus infected cells provide a good model system for studying nuclear organization during RNA production and transport. This thesis is focused on the dynamic organization of splicing factors during the late phase of Adenovirus infection in HeLa cells, the nuclear localization of viral RNA, and the pathway used for viral RNA transport to the cytoplasm. LÄS MER

  4. 23. Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity

    Författare :Jorune Balciuniene; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; linkage analysis; hearing loss; digenic inheritance; allelic association; monoamine oxidase; human genetic diversity; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : This thesis focuses on the identification of genetic factors underlying two inherited human phenotypes: hearing loss and monoamine oxidase activity. Non-syndromic hearing loss segregating in a Swedish family was tested for linkage to 13 previously reported candidate loci for hearing disabilities. LÄS MER

  5. 24. Genetic Risk Factors for Cervical Carcinoma in situ

    Författare :Anna Beskow; Peter L Stern; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Cervical carcinoma; human papillomavirus; viral load; long-term infection; HLA class II; p53; E6 variant; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Oncogenic human papillomaviruses (HPVs) are implicated in 99.7 % of cervical cancer cases but require the co-operation of other factors. To investigate potential genetic risk factors we have typed the HLA class II DRB1 and DQB1 loci in 478 women diagnosed with cervical carcinoma in situ and in 608 age-matched controls. LÄS MER

  7. 25. High-resolution Studies of mRNA Expression in Brain : A Search for Genes Differently Expressed in Schizophrenia

    Författare :Anja Castensson; Elena Jazin; Terence Speed; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mRNA; gene expression; real-time RT-PCR; schizophrenia; 5-HT serotonin receptor 2C; brain; psychiatric genetics; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Gene expression differences between patients and controls can be used to find susceptibility genes and drug targets for a disease. High-resolution strategies are required because the differences between the investigated groups may be small and numerous factors may affect the mRNA quantity. LÄS MER