Search for dissertations about: "PCR-SSCP"

Showing result 1 - 5 of 8 swedish dissertations containing the word PCR-SSCP.

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

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

    Abstract : 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. READ MORE

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

    Author : Liping Luo; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : 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. READ MORE

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

    Author : Stanislav L. Karsten; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mucopolysaccharidosis type II; Hunter syndrome; MPSII; iduronate-2-sulfatase; mutational analysis; homologous nonhomologous recombination; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : 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. READ MORE

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

    Author : Haixin Lei; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Breast cancer; low penetrance gene; CDH1; ILC; IDC; mutation; SNP; BA CHI; ATM; EST1; cryptic splice site; SR proteins; dinucleotide repeats; splicing silencer.;

    Abstract : 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). READ MORE

  7. 5. Malignant melanoma of the vulva

    Author : Boel Ragnarsson Olding; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Malignant melanoma; Vulvar melanoma; mucosal melanoma; epidemiology; amelanotic melanoma; pre-existing nevus; N-Ras mutation; TP53 mutation;

    Abstract : 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. READ MORE