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119 Int'l J. Legal Med. 1 (2005)

handle is hein.journals/injlegame119 and id is 1 raw text is: Int J Legal Med (2004) 119 : 1-9 DOI 10.1007/s00414-004-0437-4 Harald Niederstatter Burkhard Berger Herbert Oberacher Anita Brandstatter Christian G. Huber - Walther Parson Separate analysis of DYS385a and b versus conventional DYS385 typing: is there forensic relevance? Received: 22 October 2003 / Accepted: 3 March 2004 / Published online: 8 April 2004 © Springer-Verlag 2004 Abstract In order to determine to what extent the sepa- rate analysis of both copies of DYS385 improves Y-chro- mosomal short tandem repeat (Y-STR) haplotyping, we followed a recently published protocol for the separate amplification of DYS385a and DYS385b with modifica- tions and compared the results with those obtained by con- ventional analysis in a population sample comprising 133 unrelated Caucasian males from Austria. Additionally, we typed all markers of the minimal haplotype (minHT) and a set of Y-chromosomal single nucleotide polymorphisms (Y-SNPs) in order to interpret the STR data depending on the Y-SNP haplogroup structure. The separate amplifica- tion of DYS385a and b improved the power of discrimi- nation of this marker when compared to the results ob- tained with the conventional non-locus-discriminating am- plification strategy. However, the degree of this improve- ment varied greatly between different haplogroups and was found to be highest in Glade K. In the forensically rel- evant context of the minHT, the separate analysis of the DYS385 alleles had no effect on the differentiation of pa- ternal lineages in our study. Furthermore, the amplicon lengths of 700-780 base pairs obtained in the course of the locus-discriminating approach restrict the applicabil- ity of this amplification strategy to high quality DNA samples. Keywords Y chromosome -DYS385 - Y-STR - Y-SNP haplogroups - Population study H. Niederstatter B. Berger H. Oberacher A. Brandstatter W. Parson (®) Institute of Legal Medicine, Medical University of Innsbruck, Mflllerstrasse 44, 6020 Innsbruck, Austria Tel.: +43-512-5073303, Fax: +43-512-5072764, e-mail: walther.parson@ uibk.ac.at C. G. Huber Instrumental Analysis and Bioanalysis, Saarland University Building 9.2, 66123 Saarbrflcken, Germany Introduction The major limitation (and also advantage) associated with the use of Y-chromosomal markers in forensic science is that they can discriminate between different paternal lin- eages but not between males that belong to the same pa- triline. The reason for this is that the male-specific region of the Y-chromosome (MSY, Skaletsky et al. 2003) does not recombine during meiosis. Hence, the MSY is trans- mitted along paternal lineages and all markers in it are fully linked. Consequently, all members of a particular lineage show the same allele combination for the set of Y-chromosomal markers used, which has to be considered as a haplotype. A combination of eight Y-chromosomal short tandem repeat systems (Y-STRs) forms the core set of the markers included in the Y-STR haplotype reference database (YHRD; Roewer et al. 2001; http://www.ystr.org). This allele com- bination is generally referred to as the minimal haplo- type (minHT). In order to improve Y-chromosomal haplotyping, a num- ber of novel Y-STRs have been characterized and studied in different populations (e.g. Beleza et al. 2003; Berger et al. 2003; Butler et al. 2002; Redd et al. 2002; Zarrabeitia et al. 2003). On the other hand, the analysis of the Y-STR marker with the highest gene diversity in the minHT, DYS385, does not utilize the full information content of this duplicated marker when conventional PCR strategies are used, because both copies are amplified simultane- ously. This makes an unambiguous assignment of the al- leles to the loci DYS385a and DYS385b impossible. DYS385a and b lie on the long arm of the Y-chromo- some in palindrome P4 close (~450 bp) to the proximal and distal inner borders that separate the duplicated arms (190 kb long, 99.97% sequence identity) from the 40 kb interspersed unique spacer-sequence (Kittler et al. 2003; Seo et al. 2003; Skaletsky et al. 2003). This enables the design of locus-specific PCR primers that hybridize to the spacer-sequence. Both DYS385 alleles can be amplified separately when these primers are used in combination with a non-discriminating primer that lies in the duplicated

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