UK and Irish Y-STR population data—A catalogue of variant alleles

Anastasia Aliferi; Jim Thomson; Andrew McDonald; Vanessa Molin Paynter; Steven Ferguson; Des Vanhinsbergh; Denise Syndercombe Court; David Ballard

doi:10.1016/j.fsigen.2018.02.018

UK and Irish Y-STR population data—A catalogue of variant alleles

Anastasia Aliferi, Jim Thomson, Andrew McDonald, Vanessa Molin Paynter, Steven Ferguson, Des Vanhinsbergh, Denise Syndercombe Court, David Ballard

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Abstract

A total of 3128 Y-STR profiles from three UK and one Irish population have been analysed with the PowerPlex Y23 system and are reported here. Instances of haplotype sharing between apparently unrelated individuals were identified and further investigated with the use of the 5 additional markers within the Yfiler Plus kit, resulting in a reduction by 76% in the number of shared haplotypes. Furthermore, Yfiler Plus was also employed to verify locus deletions and duplications observed in Y23 genotypes while inconsistencies between the two kits were sequenced, revealing underlying Y23 primer binding site mutations in loci DYS392 and DYS576. Finally, the mechanism behind a previously reported population specific peak shift observed in DYS481 in South Asian samples has been evaluated and further investigated in a novel case of this phenomenon seen in a Black British individual featuring a different flanking region mutation.

Original language	English
Pages (from-to)	E1-E6
Journal	Forensic Science International-Genetics
Volume	34
Early online date	2 Mar 2018
DOIs	https://doi.org/10.1016/j.fsigen.2018.02.018
Publication status	Published - 1 May 2018

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title = "UK and Irish Y-STR population data—A catalogue of variant alleles",

abstract = "A total of 3128 Y-STR profiles from three UK and one Irish population have been analysed with the PowerPlex Y23 system and are reported here. Instances of haplotype sharing between apparently unrelated individuals were identified and further investigated with the use of the 5 additional markers within the Yfiler Plus kit, resulting in a reduction by 76% in the number of shared haplotypes. Furthermore, Yfiler Plus was also employed to verify locus deletions and duplications observed in Y23 genotypes while inconsistencies between the two kits were sequenced, revealing underlying Y23 primer binding site mutations in loci DYS392 and DYS576. Finally, the mechanism behind a previously reported population specific peak shift observed in DYS481 in South Asian samples has been evaluated and further investigated in a novel case of this phenomenon seen in a Black British individual featuring a different flanking region mutation.",

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T1 - UK and Irish Y-STR population data—A catalogue of variant alleles

AU - Aliferi, Anastasia

AU - Thomson, Jim

AU - McDonald, Andrew

AU - Paynter, Vanessa Molin

AU - Ferguson, Steven

AU - Vanhinsbergh, Des

AU - Court, Denise Syndercombe

AU - Ballard, David

PY - 2018/5/1

Y1 - 2018/5/1

N2 - A total of 3128 Y-STR profiles from three UK and one Irish population have been analysed with the PowerPlex Y23 system and are reported here. Instances of haplotype sharing between apparently unrelated individuals were identified and further investigated with the use of the 5 additional markers within the Yfiler Plus kit, resulting in a reduction by 76% in the number of shared haplotypes. Furthermore, Yfiler Plus was also employed to verify locus deletions and duplications observed in Y23 genotypes while inconsistencies between the two kits were sequenced, revealing underlying Y23 primer binding site mutations in loci DYS392 and DYS576. Finally, the mechanism behind a previously reported population specific peak shift observed in DYS481 in South Asian samples has been evaluated and further investigated in a novel case of this phenomenon seen in a Black British individual featuring a different flanking region mutation.

AB - A total of 3128 Y-STR profiles from three UK and one Irish population have been analysed with the PowerPlex Y23 system and are reported here. Instances of haplotype sharing between apparently unrelated individuals were identified and further investigated with the use of the 5 additional markers within the Yfiler Plus kit, resulting in a reduction by 76% in the number of shared haplotypes. Furthermore, Yfiler Plus was also employed to verify locus deletions and duplications observed in Y23 genotypes while inconsistencies between the two kits were sequenced, revealing underlying Y23 primer binding site mutations in loci DYS392 and DYS576. Finally, the mechanism behind a previously reported population specific peak shift observed in DYS481 in South Asian samples has been evaluated and further investigated in a novel case of this phenomenon seen in a Black British individual featuring a different flanking region mutation.

U2 - 10.1016/j.fsigen.2018.02.018

DO - 10.1016/j.fsigen.2018.02.018

M3 - Article

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VL - 34

SP - E1-E6

JO - Forensic Science International-Genetics

JF - Forensic Science International-Genetics

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UK and Irish Y-STR population data—A catalogue of variant alleles

Abstract

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