Sökning: "Chromosome Deletion"

Visar resultat 1 - 5 av 108 avhandlingar innehållade orden Chromosome Deletion.

  1. 1. Molecular mechanisms in cervical carcinogenesis : Studies of clonality, somatic genetic alterations and human papillomavirus variants in cervical pre-invasive and invasive cancer

    Författare :Zhongmin Guo; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; cervical cancer; CIN; clonality; X-chromosome inactivation; LOH; HPV; chromosome 3p; chromosome 6; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

    Sammanfattning : Cervical cancer derives from a series of pre-invasive cervical neoplastic lesions termed CIN I-III (Cervical Intraepithelial Neoplasia) via typical multiple-step processes. In contrast to premalignant disorders in other organs, different degrees of CIN possess a distinct biological behaviour where a proportion spontaneously regress or persist, whereas some progress to invasive cancer. LÄS MER

  3. 2. Characterization of chromosome abnormalities

    Författare :Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Inborn chromosome abnormalities are a frequent cause of mental retardation and birth defects. Apart from aberrations that are visible in the microscope, a number of submicroscopic alterations have recently been discovered, and all of these chromosome changes are in fact the result of DNA alterations at the molecular level. LÄS MER

  4. 3. 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

  5. 4. Detecting Deletions by Analysis of Genetic Markers in Pedigrees

    Författare :Anna Johansson; Biologiska institutionen; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; cytogenetics; Genetik; Genetics; Biologi; genetic marker; pedigree; Protein S deficiency; Biology; PROS1; deletion; null allele; cytogenetik;

    Sammanfattning : A deletion is defined as a missing piece of a chromosome, ranging in size from as small as a single base pair to as much as an entire arm of a chromosome. Deletions can cause diseases, but may also have a neutral effect in the genome. LÄS MER

  7. 5. Genetic alterations in Scandinavian neuroblastoma tumors

    Författare :Katarina Ejeskär; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuroblastoma; loss of heterozygozity; deletion; 1p; 3p; CDC2L1; TP73; CORT; FHIT;

    Sammanfattning : The results presented here derive from our efforts to find genes and chromosomal regions of interest in the formation and progression of the childhood tumor neuroblastoma.Neuroblastoma is the most common extracranial solid tumor of childhood. LÄS MER