Entwicklung neuer Markersysteme für die ancient DNA Analyse

Abstract

The reconstruction of living conditions and social structures of people of the past are main challenges of anthropology. In this context, skeletal remains of prehistoric individuals represent a major source for respective investigations. The analysis of these remains enable to determine biological features which in turn allow further investigation of historico-cultural questions of historical populations. The analysis of ancient DNA (aDNA) offers an access to biological data additionally to the data obtained by classic morphological methods. To extend the capacity of the molecular methods available until now for the investigation of skeletal remains, new analysis systems were established focusing on an improved sex identification, the determination of gender ratio, kinship analysis, typing of mutations discussed in the context of epidemiological questions and obtaining information on the outer appearance of our ancestors.The unambiguous identification of an individual s biological sex forms the basis for investigations concerning the gender ratio within a population. To enable a reliable sex identification a multiplex PCR system was developed for co-amplifying the Amelogenin locus and two X-chromosomal as well as two Y-chromosomal STRs (short tandem repeats). This analysis system was applied successfully to human remains from a Bronze Age cave (Lichtensteinhöhle/Harz).The canon of markers used until now for kinship analysis in aDNA research was also extended by introducing X-chromosomal STRs which provide valuable information particularly for the investigation of deficiency cases like dyads consisting of father and daughter. A newly designed X-STR multiplex PCR was applied to samples from the Bronze Age Lichtenstein cave and the early modern site Goslar/Hinter den Brüdern. Here, father-daughter kinship-relations assumed on the basis of autosomal STRs were investigated with the X-STR analysis system. Moreover, the typing of X-STRs contributed to the reconstruction of marriage patterns in the Lichtenstein cave and in synthesis with data from Y-chromosomal STRs and mt-DNA typing provided an indication of a patrilocal residence pattern.The development of a multiplex-PCR system for typing the immunogenetic marker ccr5 enabled the investigation of questions concerning the time of spreading of the ccr5Δ32 variant. It could be demonstrated that the age of this mutation was mostly underestimated up to now. Finally, a contribution was made to establish the use of molecular markers for the reconstruction of phenotypic characteristics in aDNA research. SNPs (single nucleotide polymorphisms) associated with phenotypic characteristics were investigated from historical skeletal remains and enable to partially reconstruct the outer appearance of the investigated (pre-)historic individuals.