Sökning: "snp-array"

Visar resultat 1 - 5 av 26 avhandlingar innehållade ordet snp-array.

  1. 1. Genomic characterization of ETV6/RUNX1-positive acute lymphoblastic leukemia

    Författare :Henrik Lilljebjörn; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP array; array CGH; ETV6 RUNX1-positive ALL; childhood ALL; exome sequencing;

    Sammanfattning : The t(12;21) translocation generates the ETV6/RUNX1 fusion gene, present in 25% of childhood acute lymphoblastic leukemia. This fusion gene is important for leukemia development but is not sufficient for leukemia to arise. LÄS MER

  3. 2. Genetic studies of children with mental retardation

    Författare :Saideh Rajaei; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

    Sammanfattning : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. LÄS MER

  4. 3. CYTOGENETIC AND MOLECULAR GENETIC CHARACTERIZATION OF LIPOMAS

    Författare :Hammurabi Bartuma; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; soft tissue tumors; adipocytic tumors; conventional lipomas; spindle cell lipoma; HMGA2; cytogenetic; molecular genetic; SNP array; GGE;

    Sammanfattning : The focus of this thesis was to study cytogenetic and molecular genetic aberrations in lipomas. For this purpose, chromosome banding analysis, fluorescence in situ hybridization (FISH), as well as high resolution single nucleotide polymorphism (SNP)–arrays were used to identify recurrent chromosomal aberrations in lipomas. LÄS MER

  5. 4. Pathogenetic Mechanisms in Soft Tissue Tumors

    Författare :Elsa Arbajian; Avdelningen för klinisk genetik; []
    Nyckelord :Soft tissue tumors; Sarcomas; Gene fusions; SNP array; Next generation sequencing; Haploidization; Point mutations;

    Sammanfattning : Soft tissue tumors (STT) constitute a heterogeneous group of tumors that arise in tissues of mesenchymal origin. They are currently classified according to morphology and resemblance to normal tissue into over 100 subtypes. LÄS MER

  7. 5. Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia

    Författare :Josef Davidsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; high hyperdiploid ALL; children; chromosome aberration; methylation profiling; array CGH; relapse; SNP array; clonal relationship; dup 1q ;

    Sammanfattning : The aim of this thesis was to analyze the genetic and epigenetic characteristics of pediatric high hyperdiploid acute lymphoblastic leukemia (HeH ALL), the most common type of childhood malignancy. The three original articles presented in this thesis have addressed three major questions regarding HeH ALL: what are the genetic characteristics of the most common structural abnormality – dup(1q)? Are aberrant methylation patterns involved in leukemogenesis? How do diagnostic and relapse samples relate to each other genetically? In article I we found that the proximal breakpoints of dup(1q)-positive Burkitt lymphomas (BL) and pediatric HeH ALLs cluster close to the centromere, suggesting this region to be breakprone, and that five genes on 1q were significantly overexpressed and thus potentially pathogenetically important. LÄS MER