Anne-Marie Pflugbeil

• Das Ziel dieser Arbeit ist die Etablierung eines methodischen Vorgehens für die Analyse ausgewählter Single Nucleotide Polymorphisms (SNPs) des mitochondrialen Genoms. Dabei sollen benötigte Schritte von der Isolation der mtDNA aus dem Untersuchungsmaterial bis zur Analyse ausgewählter mtSNPs geprüft werden. Der methodische Ablauf wurde an problematisch zu untersuchendem Untersuchungsmaterial erprobt. Die Ergebnisse der Forschungsarbeit werden in einem ausführlichen Arbeitsprotokoll zusammengefasst. Dieses kann für thematisch ähnliche Fragestellungen in der molekulargenetischen Forensik zur Verfügung gestellt werden.
• The aim of this thesis is to establish mtSNP analysis in forensic science to obtain an alternati-ve for the analysis of highly degraded test material with common STR-Systems. After literature research, 24 relevant mtSNPs were selected, located in the coding and noncoding region of mtD-NA. In addition to mitochondrial division, mtSNPs were displayed in different multiplex assays, to increase the discrimination power of several mtSNP sets. Nuclear and mitochondrial DNA was obtained from approx. 60 year floor-mounted skeletal remains and, if present, teeth by phenol-chloroform extraction. The principle of minisequencing was subsequently used to examined the previously selected mtSNPs. Single Nucleotide Polymorphisms (SNPs) are pointmutations, lo-cated in the mitochondrial genome. They represent a single, evolutionäry event in the human history. The increasing use of mitochondrial DNA (mtDNA) in forensic science is based on sever-al well recognized advantages in comparison to nuclear DNA testing in cases of extreme sample degradation, shed hairs, or where comparisons between maternal relatives are necessary.