Forensic validation of the STR systems SE 33 and TC 11

Wiegand, Peter; Budowle, Bruce; Rand, S.; Brinkmann, B.

doi:10.1007/bf01222114

Cited by 183 publications

(103 citation statements)

References 7 publications

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“…Analysis of STR polymorphisms is now applied to forensic human identification (Fregeau and Fourney 1993;Wiegand et al 1993), and detection of fluorescently labeled PCR products has been accepted in this field due to the speed, sensitivity, throughput, and high discrimination that STR profiling provides (Kimpton et al 1994). Several multicolor, multiplex STR reaction sets have been described for use on semi-automated, slab-gel systems (Fregeau and Fourney 1993;Urquhart et al 1995;Sprecher et al 1996).…”

mentioning

confidence: 99%

Sensitivity, reproducibility, and accuracy in short tandem repeat genotyping using capillary array electrophoresis.

Mansfield¹,

Vainer²,

Enad³

et al. 1996

Genome Res.

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The Human Genome Initiative has increased significantly the rate at which disease-causing genes are being mapped and sequenced. New cost-effective methods to locate the genes and to characterize disease-causing mutations require robust, reproducible, and accurate protocols for measuring DNA fragment lengths. Capillary array electrophoresis (CAE) offers rapid, high-resolution separations, high throughput, and sensitive detection. To assess the utility of CAE for the accumulation of genetic information, we tested both sizing accuracy and reproducibility using 48-capillary prototype systems. Two multiplex PCR allelic ladder standards and several CA-repeat markers were analyzed in >100 runs. Reproducibility in typing >8000 genotypes reveals a standard deviation of less than 0.2 bp on these systems under optimized conditions. However, sequence-dependent migration anomalies were observed at most simple sequence loci even when analyzed under denaturing conditions, resulting in a systematic bias in estimated fragment sizes. We show here that, by normalizing results to known typing controls, one can obtain locus-averaged accuracies of <0.06 bp and normalized results within I bp of actual. We detect as little as a 1:30,000 dilution of a DNA quantitation standard stained with highly sensitive intercalating dyes, indicating an 80-zeptomole sensitivity limit. However, to obtain reproducible electrokinetic injection, -200 attomoles of fluorescein-labeled DNA is required. These sensitivity limits, sizing precision, and accuracy, together with the I-hr run times for 48-96 samples, indicate that CAE is a viable method for high-throughput genetic analysis of simple sequence repeat polymorphisms.

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mentioning

confidence: 99%

Sensitivity, reproducibility, and accuracy in short tandem repeat genotyping using capillary array electrophoresis.

Mansfield¹,

Vainer²,

Enad³

et al. 1996

Genome Res.

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“…The structure of all alleles is (TCTG) 4-7 (TCTA) [10][11][12][13][14] (48 bp)(TCTG) 3 (TCTA) [8][9][10][11][12][13] and is possibly the result of duplication of one initial repeat motif; 53 different alleles, ie haplotypes, were observed ( Table 1). The differences arise from the number and arrangement of repeats in the two repetitive stretches ( 10 was found 58 times in seven of our 10 population samples (Table 1), haplotype #25); additionally we found eight other haplotypes of the same length but with different arrangement of the repeats.…”

Section: Resultsmentioning

confidence: 99%

“…Therefore new mutations are more likely to occur in the longer TCTA strand than in the shorter 5'-TCTG strand. Interestingly, the autosomal tetranucleotide repeat in the intron 31 of the von Willbrandt Factor gene (VWA) has a similar repeat structure of (TCTG) 4 (TCTA) [8][9][10][11][12][13][14][15][16][17] . Variation in length of this STR is almost exclusively due to variations in the number of TCTA repeats, indicating the higher mutability of this repeat motif.…”

Section: Discussionmentioning

confidence: 99%

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Polymorphism at the tetranucleotide repeat locus DYS389 in 10 populations reveals strong geographic clustering

et al. 1998

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Several short tandem repeat polymorphism loci at the non-recombining part of the Y chromosome have been described recently and are now widely used for the investigation of the history and the diversity of man.1-5 The tetranucleotide repeat polymorphism at the DYS389 locus consists of two repetitive stretches with different numbers of (TCTG) n (TCTA) m repeat units. To study the overall variability of this locus, 768 alleles from males from 10 human populations (two sub-Saharan African, four Caucasoid and four Asian/Amerind populations) were investigated. The alleles found in the populations of different geographic origin exhibited remarkable differences in the number and arrangement of repeats in the two repetitive stretches and up to nine different sequence variants for a single fragment length have been detected. So far 53 different alleles, ie haplotypes, have been observed. Analysis of molecular variance (AMOVA) indicates that at least 24.5% of the total genetic variance was found between the populations and that these differences were significant in most pairwise comparisons. We propose a model, in which both founder effects and genetic drift together with single step replication slippage mutations explain the picture of haplotype diversity observed with this single locus.

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“…DNA was separated on native horizontal discontinuous 6% polyacrylamide gels as described [9]. To separate DNA on a denaturating 6% polyacrylamide gel, the instructions for Gene Print Ô STR Systems by Promega (Madison, WI, USA) were applied.…”

Section: Electrophoresismentioning

confidence: 99%

Characterization of a highly variable short tandem repeat polymorphism at the D2S1242 locus

1999

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Forensic validation of the STR systems SE 33 and TC 11

Cited by 183 publications

References 7 publications

Sensitivity, reproducibility, and accuracy in short tandem repeat genotyping using capillary array electrophoresis.

Sensitivity, reproducibility, and accuracy in short tandem repeat genotyping using capillary array electrophoresis.

Polymorphism at the tetranucleotide repeat locus DYS389 in 10 populations reveals strong geographic clustering

Characterization of a highly variable short tandem repeat polymorphism at the D2S1242 locus

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