A highly variable STR at the D12S391 locus

Lareu, M.V.; Pestoni, C.; Schürenkamp, M.; Rand, S.; Brinkmann, B.; Carracedo, Ángel

doi:10.1007/bf01369673

Cited by 72 publications

(41 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These 6-dye multiplex assays co-amplify the 22 polymorphic STR markers D1S1656, D2S441, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D10S1248, D12S391, D13S317, D16S539, D18S51, D19S433, D21S11, D22S1045, CSF1PO, FGA [FIBRA], TH01 [TC11], TPOX, vWA, SE33 [ACTBP2], and DYS391, the gender-specific Amelogenin and the Quality Sensor. All genetic loci have been characterized in numerous studies by other laboratories as examples: [5][6][7]. As a special feature, both kits contain an internal PCR control (Quality Sensor QS1 and QS2), which provides valuable data without affecting PCR performance, even in the case of low DNA content samples.…”

Section: Introductionmentioning

confidence: 99%

Developmental validation of QIAGEN Investigator® 24plex QS Kit and Investigator® 24plex GO! Kit: Two 6-dye multiplex assays for the extended CODIS core loci

Kraemer

Prochnow

Bussmann

et al. 2017

Forensic Science International: Genetics

View full text Add to dashboard Cite

The original CODIS database based on 13 core STR loci has been overwhelmingly successful for matching suspects with evidence. In order to increase the power of discrimination, reduce the possibility of adventitious matches, and expand global data sharing, the CODIS Core Loci Working Group determined the expansion of the CODIS core loci to 20 STR plus three additional "highly recommended" loci (SE33, DY391, Amelogenin) Hares, 2015Hares, , 2012. The QIAGEN Investigator 24plex QS and Investigator 24plex GO! Kits are 6-dye multiplex assays that contain all markers of the expanded 23 CODIS core loci along with a unique internal performance control that is co-amplified with the STR markers. The "Quality Sensor" generates additional information for quality control and performance checks. Investigator 24plex QS is designed for purified DNA from casework and reference samples, whereas 24plex GO! is dedicated to direct amplification of reference samples, like blood or buccal cells on FTA or swabs.A developmental validation study was performed on both assays. Here, we report the results of this study which followed the recommendations of the European Network of Forensic Science Institutes (ENFSI) [3] and the Revised Validation Guidelines of the Scientific Working Group on DNA Analysis Methods (SWGDAM) [4]. Data included are for PCR-based procedures e.g. reaction conditions, effects of PCR annealing temperature variations, amplification cycles or cyclers, sensitivity (also in the context of the Quality Sensor), performance with simulated inhibition, stability and efficiency, precision, reproducibility, mixture study, concordance, stutter, species specificity, and case-type samples. The validation results demonstrate that the Investigator 24plex QS and Investigator 24plex GO! Kits are robust and reliable identification assays as required for forensic DNA typing in forensic casework analysis and databasing.

show abstract

Section: Introductionmentioning

confidence: 99%

Developmental validation of QIAGEN Investigator® 24plex QS Kit and Investigator® 24plex GO! Kit: Two 6-dye multiplex assays for the extended CODIS core loci

Kraemer

Prochnow

Bussmann

et al. 2017

Forensic Science International: Genetics

View full text Add to dashboard Cite

show abstract

“…The STR polymorphisms HUMTH01 [1,2], HUMVWA31 /A [3,4], HUMF13A1 [5], HUMFES / FPS [6], D12S391 [7], HUMFIBRA / FGA [8] are increasingly used for paternity testing and forensic identification. All of these systems consist of tetranucleotide repeat units with some variants.…”

Section: Introductionmentioning

confidence: 99%

Population distribution of six PCR-amplified loci in Madeira Archipelago (Portugal)

Côrte-Real¹,

Souto²,

Anjos³

et al. 1999

Forensic Science International

View full text Add to dashboard Cite

“…Population data revealed that both loci are very polymorphic and display a considerable number of alleles. Due to the presence of (AAAG) and (GAAG) repeats, the STR system at locus D11S488 could be classified as a compound STR, such as locus D11S554 (Adams et al 1993) or locus D12S391 (Lareu et al 1996). In contrast the STR system at locus D8S639 has intermediate microvariations with similiarities to complex STR sys- tems, such as locus HumACTBP2 Möller and Brinkmann 1994).…”

Section: Discussionmentioning

confidence: 99%

“…Simple repeats contain units of identical length and sequence, compound repeats comprise two or more adjacent simple repeats, complex repeats may contain several repeat blocks of variable length, along with variable intervening sequences (Urquhart et al 1994). Very often a high polymorphism is associated with considerable sequence variations (Adams et al 1993;Möller and Brinkmann 1994;Brinkmann et al 1996;Lareu et al 1996). Although most STR loci are characterized by a low mutation rate (Weber and Wong 1993), some loci exhibit hypermutability (Talbot et al 1995) and microsatellite instability is found in a variety of neoplasmas (Perucho 1996;Boland 1996) or has been associated with some human genetic disorders (Mahadevan et al 1992).…”

Section: Introductionmentioning

confidence: 99%

Sequence analysis and population data of short tandem repeat polymorphisms at loci D8S639 and D11S488

et al. 1999

View full text Add to dashboard Cite

Short tandem repeat loci are ideal markers for forensic and paternity case work. A high degree of polymorphism, as determined by gross length measurement, is very often due to complex underlying sequence variation. In the present study, we have studied the sequence structure and population genetics of two short tandem repeat polymorphisms at loci D8S639 and D11S488 in German Caucasians from the region of Hesse. Sequence data revealed a considerable polymorphism at both loci. Locus D8S639 is characterized by a tetranucleotide (AGAT)n repeat pattern with (GAT) and (AGGT) repeats dispersed throughout several alleles. These microvariations lead to alleles differing by one base pair or alleles of identical size. At locus D8S639 we observed 17 allelic lengths comprising 25 different alleles. Alleles at locus D11S488 possess a compound repeat region consisting of (AAAG)n and (GAAG)n repeats. At locus D11S488 we observed 15 allelic lengths with a total of 24 alleles. Allelic lengths increased in size by 4bp increments corresponding to the addition of one tetranucleotide repeat unit. Population data of loci D8S639 and D11S488 revealed a high polymorphism with heterozygosity rates of 0.85 (D8S639) and 0.91 (D11S488).

show abstract

A highly variable STR at the D12S391 locus

Cited by 72 publications

References 15 publications

Developmental validation of QIAGEN Investigator® 24plex QS Kit and Investigator® 24plex GO! Kit: Two 6-dye multiplex assays for the extended CODIS core loci

Developmental validation of QIAGEN Investigator® 24plex QS Kit and Investigator® 24plex GO! Kit: Two 6-dye multiplex assays for the extended CODIS core loci

Population distribution of six PCR-amplified loci in Madeira Archipelago (Portugal)

Sequence analysis and population data of short tandem repeat polymorphisms at loci D8S639 and D11S488

Contact Info

Product

Resources

About