title: Analysis of 36 Y-STR marker units including a concordance study among 2085 Dutch males.
abstract: The genotypes of 36 Y-chromosomal short tandem repeat (Y-STR) marker units were analysed in a Dutch population sample of 2085 males. Profiling results were compared for several partially overlapping kits, i.e. PowerPlex Y, Yfiler, PowerPlex Y23, and two in-house designed multiplexes with rapidly mutating Y-STRs. Nineteen Y-STR marker units, of which two are rapidly mutating, reside in at least two of these multiplexes, and for these markers concordance testing was performed. Two samples showed discordant genotyping results and the probable causative base change was revealed by Sanger sequencing. In addition, we encountered concordant, but aberrant genotyping results including one allele with low peak height and several null alleles. For 12 samples, this involved a null allele in two adjacent loci suggesting a large and recurrent deletion as the samples represent three distinct haplogroups. For each marker unit, the allele counts and frequencies are presented, as are the haplotype counts and haplotype diversities for several combinations of markers.
authors.affiliation: Department of Human Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490 AA The Hague, The Netherlands. Electronic address: t.westen@nfi.minvenj.nl.
authors.forename: Antoinette A
authors.initials: AA
authors.lastname: Westen
authors.affiliation: Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Postzone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: t.kraaijenbrink@lumc.nl.
authors.forename: Thirsa
authors.initials: T
authors.lastname: Kraaijenbrink
authors.affiliation: Department of Human Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490 AA The Hague, The Netherlands. Electronic address: l.clarisse@nfi.minvenj.nl.
authors.forename: Lindy
authors.initials: L
authors.lastname: Clarisse
authors.affiliation: Department of Human Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490 AA The Hague, The Netherlands. Electronic address: l.grol@nfi.minvenj.nl.
authors.forename: Laurens J W
authors.initials: LJ
authors.lastname: Grol
authors.affiliation: Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Postzone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: p.willemse@lumc.nl.
authors.forename: Patricia
authors.initials: P
authors.lastname: Willemse
authors.affiliation: Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Postzone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: s.b.zuniga@lumc.nl.
authors.forename: Sofia B
authors.initials: SB
authors.lastname: Zuniga
authors.affiliation: Department of Human Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490 AA The Hague, The Netherlands; Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Postzone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: l.robles.de.medina@nfi.minvenj.nl.
authors.forename: Elizaveta A
authors.initials: EA
authors.lastname: Robles de Medina
authors.affiliation: Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Postzone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: r.schouten@lumc.nl.
authors.forename: Ron
authors.initials: R
authors.lastname: Schouten
authors.affiliation: Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Postzone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: k.j.van_der_gaag@lumc.nl.
authors.forename: Kristiaan J
authors.initials: KJ
authors.lastname: van der Gaag
authors.affiliation: Department of Human Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490 AA The Hague, The Netherlands. Electronic address: n.weiler@nfi.minvenj.nl.
authors.forename: Natalie E C
authors.initials: NE
authors.lastname: Weiler
authors.affiliation: Department of Human Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490 AA The Hague, The Netherlands. Electronic address: a.kal@nfi.minvenj.nl.
authors.forename: Arnoud J
authors.initials: AJ
authors.lastname: Kal
authors.affiliation: Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. Electronic address: m.kayser@erasmusmc.nl.
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.affiliation: Department of Human Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490 AA The Hague, The Netherlands. Electronic address: t.sijen@nfi.minvenj.nl.
authors.forename: Titia
authors.initials: T
authors.lastname: Sijen
authors.affiliation: Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Postzone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: p.de_knijff@lumc.nl.
authors.forename: Peter
authors.initials: P
authors.lastname: de Knijff
mesh_terms: D041322:Chromosomes, Human, Y; D019075:Electrophoresis, Capillary; D005819:Genetic Markers; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009426:Netherlands; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers
keywords: Allele frequency; Concordance study; Forensic science; Haplotype diversity; Rapidly mutating Y-STR marker unit; Sanger sequencing