“Validation of a male-specific, 12-locus fluorescent short tandem repeat (STR) multiplex” [Forensic Sci. Int. 148 (1) (2005) 1–14]

Krenke, Benjamin E.; Viculis, Lori; Richard, Melanie L.; Prinz, Mechthild; Milne, Scott C.; Ladd, Carll; Gross, Ann Marie; Gornall, Tanis; Frappier, Josée; Eisenberg, Arthur J.; Barna, Charles; Aranda, Xavier G.; Adamowicz, Michael S.; Budowle, Bruce

doi:10.1016/j.forsciint.2005.02.008

Cited by 42 publications

(5 citation statements)

References 16 publications

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“…If the minor contributor constitutes less than 10% of the total sample, a possible drop-out of minor component in loci with one allele only must be taken into consideration when interpreting the bminor haplotype.Q The results from the validation of the PowerplexR Y-system are in good concordance with other validation studies [3] except the low amplification efficiency of locus DYS393 observed in the present study. Suboptimal ramping conditions in the PCR amplification step might be a possible explanation for this low efficiency of DYS393 PCR-amplification.…”

Section: Discussionsupporting

confidence: 91%

Evaluation of the 12 Y-STR loci in the PowerPlex® Y-system; experience from analyses of single male samples and simple male–male mixtures

Andreassen

Heitmann

2006

International Congress Series

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Section: Discussionsupporting

confidence: 91%

Evaluation of the 12 Y-STR loci in the PowerPlex® Y-system; experience from analyses of single male samples and simple male–male mixtures

Andreassen

Heitmann

2006

International Congress Series

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“…Starting in 1992 with the publication of the first polymorphic STR discovered on the non-recombining part of the Y-chromosome (Roewer et al 1992), and its immediate application to forensic casework (Roewer and Epplen 1992), more and more Y-STR markers were subsequently developed for forensic Y-STR haplotyping (Gopinath et al 2016; Hall and Ballantyne 2003; Hanson and Ballantyne 2004, 2007; Kayser et al 1997; Krenke et al 2005; Lim et al 2007; Mulero et al 2006; Rodig et al 2008; Thompson et al 2013; Vermeulen et al 2009). Up to 27 markers are currently included in commercial Y-STR kits [Yfiler Plus, Thermo Fisher Scientific (Gopinath et al 2016)] (Table 1).…”

Section: Y-strs For Paternal Lineage Identificationmentioning

confidence: 99%

“…Moreover, these commercial Y-STR kits allow the detection and characterization of DNA from males in mixed stains with high excess of DNA from females, also in cases with very low quantities of DNA from the minor male contributor as typical in material from sexual assault (Purps et al 2015). Recommendations on forensic analysis of Y-STRs have been established by the DNA Commission of the International Society of Forensic Genetics (Gill et al 2001; Gusmao et al 2006), and the Y-STR kits have forensically been validated (Gopinath et al 2016; Krenke et al 2005; Mulero et al 2006; Thompson et al 2013). This allows forensic practitioners not only to exclude male suspects from being involved in a crime via non-matching Y-STR haplotypes, but also to identify the paternal lineage that a trace donor belongs to via matching Y-STR haplotypes (Roewer 2009).…”

Section: Y-strs For Paternal Lineage Identificationmentioning

confidence: 99%

Forensic use of Y-chromosome DNA: a general overview

2017

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The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short tandem repeat polymorphisms (Y-STRs) are used to characterise paternal lineages of unknown male trace donors, especially suitable when males and females have contributed to the same trace, such as in sexual assault cases. Y-STR haplotyping applied in crime scene investigation can (i) exclude male suspects from involvement in crime, (ii) identify the paternal lineage of male perpetrators, (iii) highlight multiple male contributors to a trace, and (iv) provide investigative leads for finding unknown male perpetrators. Y-STR haplotype analysis is employed in paternity disputes of male offspring and other types of paternal kinship testing, including historical cases, as well as in special cases of missing person and disaster victim identification involving men. Y-chromosome polymorphisms are applied for inferring the paternal bio-geographic ancestry of unknown trace donors or missing persons, in cases where autosomal DNA profiling is uninformative. In this overview, all different forensic applications of Y-chromosome DNA are described. To illustrate the necessity of forensic Y-chromosome analysis, the investigation of a prominent murder case is described, which initiated two changes in national forensic DNA legislation both covering Y-chromosome use, and was finally solved via an innovative Y-STR dragnet involving thousands of volunteers after 14 years. Finally, expectations for the future of forensic Y-chromosome DNA analysis are discussed.

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“…In 2003, the Scientific Working Group on DNA Analysis Methods (SWGDAM) recommended a core set “extended haplotype” that included the “minimal haplotype” loci plus DYS438 and DYS439 [ 2 ]. On the basis of these recommendations, a series of commercial kits incorporating 12–38 Y-STR loci have been released by Promega [ 7 , 8 ] and Thermo Fisher Scientific [ 9–11 ]. In China, Peoplespot, AGCU, HEALTH Gene Technologies, and Microread have sequentially developed their commercial Y-STR kits including 36–41 loci [ 12–15 ].…”

Section: Introductionmentioning

confidence: 99%

Sequence-based mutation patterns at 41 Y chromosomal STRs in 2 548 father–son pairs

Liu

Long

Lang

et al. 2023

Forensic Sciences Research

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A total of 2548 unrelated healthy father-son pairs from a Northern Han Chinese population were genotyped at 41 Y-STRs including DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS444, DYS447, DYS448, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS522, DYS549, DYS533, DYS557, DYS570, DYS576, DYS593, DYS596, DYS627, DYS635, DYS643, DYS645, Y-GATA-H4, DYF387S1a/b, DYF404S1a/b, DYS385a/b and DYS527a/b. In 2548 father samples, 2387 unique haplotypes were detected with the haplotype diversity (HD) and discrimination capacity (DC) values of 0.999956608 and 0.967410 07. The average gene diversity (GD) value was 0.6934 with a range from 0.1051 at DYS645 to 0.9657 at DYS385a/b. When comparing alleles at 24 overlapped Y-STRs between the ForenSeq™ DNA Signature Prep Kit on the MiSeq FGx® Forensic Genomics System and the Goldeneye® DNA ID Y Plus Kit on the Applied Biosystems™ 3730 DNA Analyzer from 308 father samples in mutational pairs, 258 alleles were detected by massively parallel sequencing (MPS) typing including 156 length-based alleles that could be obtained by capillary electrophoresis (CE) typing, 95 repeat region (RR) variant alleles and 7 flanking region (FR) variant alleles. Hereof, we found 16 novel RR variant alleles and firstly identified two SNPs (rs2016239814 at DYS19 and rs2089968964 at DYS448) and one 4-bp deletion (rs2053269960 at DYS439) that had been validated by the Database of Short Genetic Variation (dbSNP). Sanger sequencing or MPS was employed to confirm 356 mutations from 104 468 allele transfers generated from CE, where 96.63% resulted in one-step mutations, 2.25% in two-step and 1.12% in multi-step, and the overall ratio of repeat gains versus losses was balanced (173 gains v.s. 183 losses). In 308 father-son pairs, 268 pairs occurred mutations at a single locus, 33 pairs at two loci, 6 pairs at three loci and 1 pair at four loci. The average Y-STR mutation rate at 41 Y-STRs was approximately 3.4 × 10−3 (95% CIs: 3.1 × 10−3–3.8 × 10−3). The mutation rates at DYS576 and DYS627 were higher than 1 × 10−2 in Northern Han Chinese, while the mutation rates at DYF387S1a/b, DYF404S1a/b, DYS449, DYS518 and DYS570 were lower than initially-defined. In this study, the classical molecular factors (the longer STR region, the more complex motif and the order father) were confirmed to drive Y-STR mutation rates increased, but the length of repeat unit did not conform to the convention. Lastly, the interactive graphical and installable StatsY was developed to facilitate forensic scientists to automatically calculate allele and haplotype frequencies, forensic parameters and mutation rates at Y-STRs.

show abstract

“Validation of a male-specific, 12-locus fluorescent short tandem repeat (STR) multiplex” [Forensic Sci. Int. 148 (1) (2005) 1–14]

Cited by 42 publications

References 16 publications

Evaluation of the 12 Y-STR loci in the PowerPlex® Y-system; experience from analyses of single male samples and simple male–male mixtures

Evaluation of the 12 Y-STR loci in the PowerPlex® Y-system; experience from analyses of single male samples and simple male–male mixtures

Forensic use of Y-chromosome DNA: a general overview

Sequence-based mutation patterns at 41 Y chromosomal STRs in 2 548 father–son pairs

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