Evaluation of Y-chromosomal STRs: a multicenter study

Abstract

A multicenter study has been carried out to characterize 13 polymorphic short tandem repeat (STR) systems located on the male specific part of the human Y chromosome (DYS19, DYS288, DYS385, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, YCAI, YCAII, YCAIII, DXYS156Y). Amplification parameters and electrophoresis protocols including multiplex approaches were compiled. The typing of non-recombining Y loci with uniparental inheritance requires special attention to population substructuring due to prevalent male lineages. To assess the extent of these subheterogeneities up to 3825 unrelated males were typed in up to 48 population samples for the respective loci. A consistent repeat based nomenclature for most of the loci has been introduced. Moreover we have estimated the average mutation rate for DYS19 in 626 confirmed fatherson pairs as 3.2 x 10(-3) (95% confidence interval limits of 0.00041-0.00677), a value which can also be expected for other Y-STR loci with similar repeat structure. Recommendations are given for the forensic application of a basic set of 7 STRs (DYS19, DYS3891, DYS389II, DYS390, DYS391, DYS392, DYS393) for standard Y-haplotyping in forensic and paternity casework. We recommend further the inclusion of the highly polymorphic bilocal Y-STRs DYS385, YCAII, YCAIII for a nearly complete individualisation of almost any given unrelated male individual. Together, these results suggest that Y-STR loci are useful markers to identify males and male lineages in forensic practice.

Genetic evidence for a family-based Scandinavian settlement of Shetland and Orkney during the Viking periods

“…The hypervariable segment 1 (HVS1) of the mtDNA control region was sequenced between sites 16055 and 16383 for each of these samples, according to previously described methods (Richards et al, 1996) and submitted to GenBank (accession numbers AY950803-AY951304). A total of 192 Shetland males from the above sample were typed for five Y-chromosome biallelic loci (Rosser et al, 2000;92R7, M9, SRY1532, TAT and YAP) and five Y-chromosome microsatellites (Kayser et al, 1997;DYS19, DYS390, DYS391, DYS392 and DYS393). In addition, previously collected DNA samples from the Scottish mainland (366), Scottish northwestern coastal region (103) and the Western Isles and Isle of Skye (72) were analyzed for the same 10 Y-chromosome loci.…”

Forensic value of 14 novel STRs on the human Y chromosome

“…Y-STR typing will be especially useful in sample mixtures involving: (1) one or more male semen donors, (2) vasectomized or azoospermic men, and (3) the presence of other body-fluid mixtures (e.g. saliva-skin, skin-sweat) from victims and suspects of different sex [1][2][3][4]. The primary limitation of Y-STRs in forensic applications is the lack of independence of these markers on the NRY, that is, the absence of recombination.…”

“…As more variable Y-STRs are discovered the potential to distinguish paternal lineages increases. Approximately 35 Y-STRs have been described to date [1,[5][6][7][8][9][10][11][12][13][14][15]. In total, these Y-STRs include: four dinucleotide (YCAI, YCAII, YCAII, and DYS288) six trinucleotide (DYF371, DYS388, DYS392, DYS425, DYS426, DYS436), 23 tetranucleotide (DYS19, DYS385, DYS389I, DYS389AB, DYS390, DYS391, DYS393, DYS434, DYS435, DY437, DYS439, DYS441, DYS442, DYS443, DYS444, DYS445, DYS460, DYS461, DYS462, G10123, A10, C4, and H4), and two pentanucleotide repeats (DXYS156Y, and DYS438).…”

“…With the exception of one multicenter-study using 13 YSTRs [1], global population screens using the majority of the published Y-STRs have not been performed. One recent study [15] compared a collection of 19 Y-STRs in a large sample of individuals from the Iberian Peninsula.…”

“…Much progress has been made in establishing a large database of many European populations using the following Y-STRs: DYS19, DYS385, DYS389I, DYS389II-I, DYS390, DYS391, DYS392, and DYS393. These Y-STRs define the ''minimal haplotype'', while the addition of YCAII to the these Y-STRs has been termed the ''extended haplotype'' [1,16,17] (Y-STR Haplotype Reference Database http://www.ystr.charite.de/ index_gr.html).…”