Detecting Deletions by Analysis of Genetic Markers in Pedigrees
Popular Abstract in Swedish En deletion innebär att det fattas en bit DNA i en kromosom. Deletioner kan variera i storlek från enstaka baspar till en stor del av en kromosom. Deletioner kan orsaka sjukdomar, men det finns också exempel på deletioner som inte ger någon påvisbar effekt på individen. Genom att analysera genetiska markörer i familjer kan man hitta mönster som kan förklaras av deletionA 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. In this thesis, I describe how inherited deletions can be detected by analysis of the segregation pattern of genetic markers in pedigrees. These methods are based on