Sökning: "PCR-SSCP"

Visar resultat 1 - 5 av 9 avhandlingar innehållade ordet PCR-SSCP.

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

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Mansour Alemi; Uppsala universitet.; [2000]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; PCR-SSCP; MTC; RET mutation; Lymphoma; HPV; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin 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

  2. 2. A genetic study on familial breast cancer predisposing genes

    Detta är en avhandling från Stockholm : Karolinska Institutet, Department of Molecular Medicine

    Författare :Liping Luo; Karolinska Institutet.; Karolinska Institutet.; [2002]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Breast cancer is the most common malignant disease among women in the western world and 10% of all breast cancer is assumed to constitute hereditary cases. Two major genes, BRCA1 and BRCA2, can only explain a fraction of familial breast cancer. The ATM carriers have high risk of developing breast cancer. LÄS MER

  3. 3. Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Stanislav L. Karsten; Uppsala universitet.; [2000]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mucopolysaccharidosis type II; Hunter syndrome; MPSII; iduronate-2-sulfatase; mutational analysis; homologous nonhomologous recombination; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. LÄS MER

  4. 4. Functional analysis of genetic variants in putative low penetrate breast cancer genes

    Detta är en avhandling från Stockholm : Karolinska Institutet, Biosciences and Nutrition

    Författare :Haixin Lei; Karolinska Institutet.; Karolinska Institutet.; [2004]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast cancer; low penetrance gene; CDH1; ILC; IDC; mutation; SNP; BA CHI; ATM; EST1; cryptic splice site; SR proteins; dinucleotide repeats; splicing silencer.;

    Sammanfattning : Paper I & II CDH1 germline mutations predispose individuals to diffuse gastric cancer, but its role in breast cancer is less clear. Somatic CDH1 mutations were reported to be frequent in lobular tumours (ILC), but they have not been found in ductal carcinomas (IDC). LÄS MER

  5. 5. Malignant melanoma of the vulva

    Detta är en avhandling från Stockholm : Karolinska Institutet, Department of Oncology-Pathology

    Författare :Boel Ragnarsson Olding; Karolinska Institutet.; Karolinska Institutet.; [1999]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Malignant melanoma; Vulvar melanoma; mucosal melanoma; epidemiology; amelanotic melanoma; pre-existing nevus; N-Ras mutation; TP53 mutation;

    Sammanfattning : From a consecutive, nationwide series of 219 females with primary vulvar malignant melanomas diagnosed in Sweden during 1960 to 1984 and followed up until 1994, we analyzed epidemiological, clinical, histopathological, prognostic and molecular genetic data. The age-standardized incidence among these patients, 75 % of whom were 60 years old or more, decreased by 3. LÄS MER