Detection of a Novel Y-Chromosome Allele Variant for Locus DYS518

Federica Giangasparo; David Ballard; Denise Syndercombe-Court; Laurence Devesse; Sasitaran Iyavoo; Thomas Haizel

doi:10.1089/forensic.2022.0006

Detection of a Novel Y-Chromosome Allele Variant for Locus DYS518

Federica Giangasparo^*, David Ballard, Denise Syndercombe-Court, Laurence Devesse, Sasitaran Iyavoo, Thomas Haizel

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

A rare allele 22 at marker DYS518 was detected during a wider population study of Y-chromosome short tandem repeat (STR) loci. The novel variant was discovered using the YFilerÒ Plus PCR Amplification kit and the sequence of the new allele confirmed with Sanger sequencing. The allele range for marker DYS518 in the included ladder in the amplification kit falls between alleles 32 and 49 with a minimum allele size of 332 bp. Variants outside this range have already been discovered and their frequency is available in the worldwide Y-chromosome STR Haplotype Reference Database (YHRD) containing >250,000 STR haplo- types. Nonetheless, the rare allele described in this study has not been seen among the YHRD data set sam- ples, which has recorded alleles between 28 and 52.2, nor in other population studies published to date.

Original language	English
Article number	10.1089/forensic.2022.0006
Journal	Forensic Genomics
Volume	2
Issue number	2
DOIs	https://doi.org/10.1089/forensic.2022.0006
Publication status	Published - 2 Nov 2022

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title = "Detection of a Novel Y-Chromosome Allele Variant for Locus DYS518",

abstract = "A rare allele 22 at marker DYS518 was detected during a wider population study of Y-chromosome short tandem repeat (STR) loci. The novel variant was discovered using the YFiler{\`O} Plus PCR Amplification kit and the sequence of the new allele confirmed with Sanger sequencing. The allele range for marker DYS518 in the included ladder in the amplification kit falls between alleles 32 and 49 with a minimum allele size of 332 bp. Variants outside this range have already been discovered and their frequency is available in the worldwide Y-chromosome STR Haplotype Reference Database (YHRD) containing >250,000 STR haplo- types. Nonetheless, the rare allele described in this study has not been seen among the YHRD data set sam- ples, which has recorded alleles between 28 and 52.2, nor in other population studies published to date.",

author = "Federica Giangasparo and David Ballard and Denise Syndercombe-Court and Laurence Devesse and Sasitaran Iyavoo and Thomas Haizel",

year = "2022",

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day = "2",

doi = "10.1089/forensic.2022.0006",

language = "English",

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TY - JOUR

T1 - Detection of a Novel Y-Chromosome Allele Variant for Locus DYS518

AU - Giangasparo, Federica

AU - Ballard, David

AU - Syndercombe-Court, Denise

AU - Devesse, Laurence

AU - Iyavoo, Sasitaran

AU - Haizel, Thomas

PY - 2022/11/2

Y1 - 2022/11/2

N2 - A rare allele 22 at marker DYS518 was detected during a wider population study of Y-chromosome short tandem repeat (STR) loci. The novel variant was discovered using the YFilerÒ Plus PCR Amplification kit and the sequence of the new allele confirmed with Sanger sequencing. The allele range for marker DYS518 in the included ladder in the amplification kit falls between alleles 32 and 49 with a minimum allele size of 332 bp. Variants outside this range have already been discovered and their frequency is available in the worldwide Y-chromosome STR Haplotype Reference Database (YHRD) containing >250,000 STR haplo- types. Nonetheless, the rare allele described in this study has not been seen among the YHRD data set sam- ples, which has recorded alleles between 28 and 52.2, nor in other population studies published to date.

AB - A rare allele 22 at marker DYS518 was detected during a wider population study of Y-chromosome short tandem repeat (STR) loci. The novel variant was discovered using the YFilerÒ Plus PCR Amplification kit and the sequence of the new allele confirmed with Sanger sequencing. The allele range for marker DYS518 in the included ladder in the amplification kit falls between alleles 32 and 49 with a minimum allele size of 332 bp. Variants outside this range have already been discovered and their frequency is available in the worldwide Y-chromosome STR Haplotype Reference Database (YHRD) containing >250,000 STR haplo- types. Nonetheless, the rare allele described in this study has not been seen among the YHRD data set sam- ples, which has recorded alleles between 28 and 52.2, nor in other population studies published to date.

U2 - 10.1089/forensic.2022.0006

DO - 10.1089/forensic.2022.0006

M3 - Article

SN - 2690-8956

VL - 2

JO - Forensic Genomics

JF - Forensic Genomics

IS - 2

M1 - 10.1089/forensic.2022.0006

ER -

Detection of a Novel Y-Chromosome Allele Variant for Locus DYS518

Abstract

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