Previous studies indicated existing, albeit limited, genetic-geographic population substructure in the Dutch population based on genome-wide data and a lack of this for mitochondrial SNP based data... Show morePrevious studies indicated existing, albeit limited, genetic-geographic population substructure in the Dutch population based on genome-wide data and a lack of this for mitochondrial SNP based data. Despite the aforementioned studies, Y-chromosomal SNP data from the Netherlands remain scarce and do not cover the territory of the Netherlands well enough to allow a reliable investigation of genetic-geographic population substructure. Here we provide the first substantial dataset of detailed spatial Y-chromosomal haplogroup information in 2085 males collected across the Netherlands and supplemented with previously published data from northern Belgium. We found Y-chromosomal evidence for genetic-geographic population substructure, and several Y-haplogroups demonstrating significant clinal frequency distributions in different directions. By means of prediction surface maps we could visualize (complex) distribution patterns of individual Y-haplogroups in detail. These results highlight the value of a micro-geographic approach and are of great use for forensic and epidemiological investigations and our understanding of the Dutch population history. Moreover, the previously noted absence of genetic-geographic population substructure in the Netherlands based on mitochondrial DNA in contrast to our Y-chromosome results, hints at different population histories for women and men in the Netherlands. Show less
Currently, Forensic DNA research is conducted almost exclusively using capillary electrophoresis to determine the length of fragments containing Short Tandem Repeats (STRs). Over the past decade,... Show moreCurrently, Forensic DNA research is conducted almost exclusively using capillary electrophoresis to determine the length of fragments containing Short Tandem Repeats (STRs). Over the past decade, developments in MPS (Massively Parallel Sequencing techniques, also known as Next Generation Sequencing) offered new possibilities for forensic DNA research. This thesis focusses on the preparation, validation and implementation of MPS and the accompanying data analysis. By MPS, the exact DNA sequence of STRs is determined often revealing additional variation on top of the fragment length resulting in an even more unique DNA profile. Sequence information provides more insight on the DNA molecules comprising a conventional DNA profile. With this information, a software could be developed to make a better distinction between genuine alleles and noise offering possibilities for analysis of unbalanced DNA mixtures which are often encountered in forensic casework.As alternative DNA marker to STRs, research was conducted to select microhaplotypes (multiple variable positions in a small fragment). The statistical power of a profile generated from these microhaplotypes turned out to be almost as strong as that of STRs without suffering from the known STR-artefacts thereby offering possibilities for interpretation of DNA mixtures. Show less
Gaag, K.J. van der; Leeuw, R.H. de; Laros, J.F.J.; Dunnen, J.T. den; Knijff, P. de 2018