Sökning: "chromosome 5"

Visar resultat 1 - 5 av 352 avhandlingar innehållade orden chromosome 5.

1. 1. Image Analysis Techniques for Segmentation, Classification and Presentation of High-Resolution Prometaphase Chromosome

   Författare :Stefan Nivall; Chalmers tekniska högskola; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; aberration; segmentation; digital image analysis; high-resolution CCD camera; classification; prometaphase; chromosome; database;

   Sammanfattning : The extraction, analysis, and presentation of integrated optical density (IOD) profiles from banded prometaphase chromosome material is an increasingly important clinical method for the detection and analysis of structural aberrations. Particular translocations, duplications, or deletions of genetic material have been shown to be implicated in specific mental or physical disorders. LÄS MER

3. 2. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

   Författare :Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

   Sammanfattning : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. LÄS MER

4. 3. Mosaic loss of chromosome Y : methods for detection and consequences for affected leukocytes and men

   Författare :Marcus Danielsson; Lars A. Forsberg; Ståhl Patrik; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mosaic loss of chromosome Y; mLOY; somatic mosaicism; Medicinsk genetik; Medical Genetics;

   Sammanfattning : It has been known for centuries that men live shorter lives than women, but until recently, the biological mechanisms driving this sex bias has been poorly understood. Mosaic loss of chromosome Y (mLOY) refers to chromosome Y aneuploidy, a male specific and the most common somatic mutation in human blood cells. LÄS MER

5. 4. The role of hematopoietic chromosome Y loss in health and disease

   Författare :Jonas Mattisson; Lars A. Forsberg; Jonatan Halvardson; Adam Ameur; Andrea Ganna; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; loss of chromosome Y; LOY; mosaic loss of chromosome Y; mLOY;

   Sammanfattning : Mosaic loss of chromosome Y (mLOY) is the most common somatic mutation, and affected men have increased risk for all major causes of death, including cardiovascular diseases and cancer. As a male specific mutation, it helps explain why men live shorter lives than women. LÄS MER

7. 5. Genetic investigations of four neurological disorders : From phenotype to mutation

   Författare :Anna Sillén; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

   Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER