Ysurnames? The patrilineal Y-chromosome and surname correlation for DNA kinship research

Abstract

The Y-chromosome is a widely studied and useful small part of the genome providing different applications for interdisciplinary research. In many (Western) societies, the Y-chromosome and surnames are paternally coinherited, suggesting a corresponding Y-haplotype for every namesake. While it has already been observed that this correlation may be disrupted by a false-paternity event, adoption, anonymous sperm donor or the cofounding of surnames, extensive information on the strength of the surname match frequency (SMF) with the Ychromosome remains rather unknown. For the first time in Belgium and the Netherlands, we were able to study this correlation using 2,401 males genotyped for 46 Y-STRs and 183 Y-SNPs. The SMF was observed to be dependent on the number of Y-STRs analyzed, their mutation rates and the number of Y-STR differences allowed for a kinship. For a perfect match, the Yfiler® Plus and our in-house YForGen kit gave a similar high SMF of 98%, but for non-perfect matches, the latter could overall be identified as the best kit. The SMF generally increased due to less mismatches when encountering [1] deep Y-subhaplogroups, [2] less frequently occurring surnames, and [3] small geographical distances between relatives. This novel information enabled the design of a surname prediction model based on genetic and geographical distances of a kinship. The prediction model has an area under the curve (AUC) of 0.9 and is therefore useable for DNA kinship priority listing in estimation applications like forensic familial searching.

CSYseq: The first Y-chromosome sequencing tool typing a large number of Y-SNPs and Y-STRs to unravel worldwide human population genetics

“…17 Y-STRs targeted by the CSYseq are also present in the commercial kits developed for MPS (ForenSeq and PowerSeq): DYS19 , DYS389I/II , DYS390 , DYS391 , DYS392 , DYS448 , DYS456 , DYS460 , DYS522 , DYS533 , DYS549 , DYS570 , DYS612 , DYS635 , DYS643 and Y-GATA-H4 . As an internal control, 21 Y-STR loci sequenced by the CSYseq were compared to previously obtained PCR-CE results from our in-house YForGen kit (46 Y-STRs) and commercial Y-kits [ 44 ]. We observed that all Y-STR allele calls were in accordance with our previous results, which confirms that the results of MPS are reliable.…”

Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers

“…Because of the lack of recombination and the relatively low mutation rate (~10 −3 mutations per marker per meiosis) of the Y-STRs typically used in forensic Y-chromosome analysis, a Y-STR haplotype highlights the male perpetrator together with many of his paternally related male relatives. This allows particular forensic Y-STR applications of genetic identification such as familial searching (Kayser, 2017), forensic genealogy (Phillips, 2018), or surname prediction (Claerhout et al, 2020). In general, however, forensic DNA analysis seeks individual identification.…”

Contemporary population genetics data for 23 Y-STR loci in the general Bosnian-Herzegovinian population

“…Other populations with low genetic diversity values when compared to the present results include those from Croatia (R st =0.0077, P=0.0148, Grskovic et al, 2011 ), Slovenia (R st =0.0497, P=0.0000, Sterlinko et al, 2001), Hungary (R st =0.0806, P=0.0000, Füredi et al, 1999;Egyed et al, 2000;Beer et al, 2004;Völgyi et al, 2009;Pamjav et al, 2017), Greece (R st =0.0943, P=0.0000, Parreira et al, 2002;Robino et al, 2004;Bosch et al, 2006;Kovatsi et al, 2009;Katsaloulis et al, 2013;Martínez et al, 2016) and North Macedonia (R st =0.1000, P=0.0000, Spiroski et al, 2005;Jakovski et al, 2019;Jankova et al, 2019). The highest genetic distance was observed when our study population was compared with the populations of Belgium (R st = 0.2341, P=0.000, Roewer et al, 2001;Maesschalck et al, 2005;Mertens et al, 2007;Purps et al, 2014;Claerhout et al, 2020), Italy (R st =0.2133, P=0.0000, Grignani et al, 2000;Presciuttini et al, 2001;Ghiani et al, 2002;Cerri et al, 2005;Robino et al, 2006;Turrina et al, 2006;Onofri et al, 2007;Ferri et al, 2008;Ferri et al, 2009;Rodríguez et al, 2009;Verzeletti et al, 2009;Brisighelli et al, 2012;Piglionica et al, 2013;Robino et al, 2015;Rapone et al, 2016;Sarno et al, 2016;…”

“…Genetic distances were used to produce MDS plots for the comparison of population haplotype data, which were automatically generated on YHRD using the data available in this database. European populations selected for comparison with the population of B&H include: B&H (n = 480, present study), previously published data for the general Bosnian-Herzegovinian population (n = 100, Kovacevic et al, 2013), Croatia (n = 232, Grskovic et al, 2011), Slovenia (n = 97, Sterlinko et al, 2001, Belgium (n = 708, Roewer et al, 2001;Maesschalck et al, 2005;Mertens et al, 2007;Purps et al, 2014;Claerhout et al, 2020), Hungary (n = 576, Füredi et al, 1999Egyed et al, 2000;Beer et al, 2004;Völgyi et al, 2009;Pamjav et al, 2017), Austria (n =253, Berger et al, 2005;Roewer et al, 2005;Erhart et al, 2012;Niederstätter et al, 2016;Pickrahn et al, 2016), Germany (n = 2756, Junge et al, 1997;Lessig and Edelmann, 1998;Schneider et al, 1998;Anslinger et al, 2000;Hidding et al, 2000;Henke et al, 2001;Schmidt et al, 2003;Immel et al, 2005;Kayser et al, 2005;Hohoff et al, 2007;Rodig et al, 2007), Czech Republic (n = 109, Zastera et al, 2010), Greece (n = 242, Parreira et al, 2002;Robino et al, 2004;Bosch et al, 2006;Kovatsi et al, 2009;Katsaloulis et al, 2013;Martínez...…”