Validation of a male-specific, 12-locus fluorescent short tandem repeat (STR) multiplex

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.2004.07.008

Cited by 72 publications

(57 citation statements)

References 14 publications

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“…The utilization of male-specific Y-chromosome STR loci are useful molecular tools for the genetic characterization of forensic biological evidence, particularly of male/female DNA mixtures where there are low quantities of male DNA amidst a large background of female DNA [1][2][3][4][5][6][7][8][9][10][11]. The analysis of Y STR loci has been greatly facilitated by the advent of commercial multiplex kits, such as the AmpFlSTR® Yfiler™ kit (Applied Biosystems, Foster City, CA, USA) [8].…”

Section: Introductionmentioning

confidence: 99%

Null allele sequence structure at the DYS448 locus and implications for profile interpretation

Budowle

Aranda

Lagacé³

et al. 2008

Int J Legal Med

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Null alleles can occur with any PCR-based STR typing system. They generally are due to deletions within the target region or primer binding sites or by primer binding site mutations that destabilize hybridization of at least one of the primers flanking the target region. Although not common, null types were detected at the DYS448 locus in seven out of 1,005 unrelated males in the Hispanic population. Of these DYS448 null types, four individuals displayed an apparent duplication at the DYS437 locus. The additional allele observed at the DYS437 locus is in actuality a smaller-sized DYS448 amplicon, which is the result of a deletion of the invariant N42 base pair domain and downstream repeats within the DYS448 locus. Thus, some DYS448 null types are not truly null. A true DYS448 null allele carried numerous primer binding site variants and a large deletion including the N42 base pair domain and surrounding or downstream repeat regions. The presence of null alleles is not a real concern for interpretation of Y STR loci evidence; current methods for interpreting Y STR profiles easily accommodate such phenomena.

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Section: Introductionmentioning

confidence: 99%

Null allele sequence structure at the DYS448 locus and implications for profile interpretation

Budowle

Aranda

Lagacé³

et al. 2008

Int J Legal Med

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“…Despite the high utility of the minHt, additional Y-STR loci are required in order to improve the potential to distinguish between different paternal lineages. In 2003, the Scientific Working Group on DNA Analysis Methods (SWGDAM) recommended the minHt plus the loci DYS438 and DYS439 [5]. A number of new Y-specific STRs have been characterized and studied in different populations during the last years [6][7][8][9][10][11][12][13][14], meaning that today more than 100 Y-STRs are available for forensic investigations [15].…”

Section: Introductionmentioning

confidence: 99%

“…A number of new Y-specific STRs have been characterized and studied in different populations during the last years [6][7][8][9][10][11][12][13][14], meaning that today more than 100 Y-STRs are available for forensic investigations [15]. Recently, Y-STR multiplex kits have become commercially available and have been validated for forensic casework [5,16]. Empirically, the Y-STR markers of commercial multiplex assays have become widely used by the forensic community, and therefore population data of these loci are of high interest for forensic purposes.…”

Section: Introductionmentioning

confidence: 99%

Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay

et al. 2005

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Y-chromosomal STR haplotypes were determined from a sample of 135 unrelated men and 70 sons from Tirol (Austria) using the AmpFlSTR Yfiler PCR amplification kit (Applied Biosystems) that coamplifies 17 YSTRs. The panel of markers includes the 9-loci European minimal haplotype (minHt) and, in addition, the markers DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 (Y GATA C4) and Y GATA H4. A total of 130 different haplotypes (125 were unique) were identified by the 17 Y-STR markers, an increase of 19 compared with the minHt. The gene diversity of DYS635, DYS456 and DYS458 exceeded 0.75 and only that of the duplicated marker DYS385 (0.86) was higher. Consistently high haplotype diversity values were found in all tested Y-SNP haplogroups. Because the simultaneous analysis of 17 Y-STR systems offers a high power of discrimination at minimum sample consumption, the Yfiler kit is a promising tool for forensic applications.

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“…The result is a smaller peak consisting of amplicons exactly one repeat shorter than the true allele basically preceding every true STR allele. Based on the circumstances it is also possible to observe stutter that is two repeats shorter or one repeat longer (Krenke et al 2005). Stutter is more prevalent for STR loci with AT-rich DNA sequences and very regular repeat units and should be measured during the validation phase (Walsh et al 1996;Mulero et al 2008;Brookes et al 2012).…”

Section: Str Data Analysismentioning

confidence: 99%

“…This approach has enabled investigators to obtain probative results after extended intervals following a sexual assault (MayntzPress et al 2008). As for autosomal STRs, Y-STR testing has been optimised by combining multiple loci in large multiplexes (Krenke et al 2005;Mulero et al 2006). Figure 63.6 displays results for the Applied Biosystems AmpFlSTR Y filer kit.…”

Section: Y Chromosome-specific Str Locimentioning

confidence: 99%

Forensic DNA Analysis

Prinz¹,

Lessig²

2014

Handbook of Forensic Medicine

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Validation of a male-specific, 12-locus fluorescent short tandem repeat (STR) multiplex

Cited by 72 publications

References 14 publications

Null allele sequence structure at the DYS448 locus and implications for profile interpretation

Null allele sequence structure at the DYS448 locus and implications for profile interpretation

Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay

Forensic DNA Analysis

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