Setting standards and developing technology to aid the human identity testing community

Butler, John M.; Coble, Michael D.; Decker, Amy E.; Duewer, David L.; Hill, Carolyn R.; Kline, Margaret C.; Redman, Janette W.; Vallone, Peter M.

doi:10.1016/j.ics.2005.09.181

Cited by 3 publications

(1 citation statement)

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“…Forensic DNA analysis for human identification and kinship studies rely on DNA profiles generated through amplification of 12-24 STR markers [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

A Unique Allele Variant at STR Locus D2S1338 in a Paternity Testing Case

Ahmad¹,

Ali²,

Siddique³

et al. 2021

AJFSFM

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Background: The relationship testing through DNA profiling may undesirably be affected by the rare allele variants, tri-allelic pattern and null alleles. Therefore, it is vital to report such anomalies. We report a paternity testing in a sexual assault case studied at Punjab Forensic Science Agency, Lahore Pakistan showing a unique allele variant in mother and child. Methods: DNA was extracted from the buccal swabs of reference samples using organic extraction method and DNA profiling was done for 15 autosomal STRs and amelogenin using Identifiler Plus kit. Results: A novel out of marker range (OMR) allele variant between STR Loci D16S539 and D2S1338 was observed in the DNA profiles of victim (mother) as well as the child. At STR locus D2S1338 Twenty one different allele variant are listed at STRBase ranging from 11 to 28. The allele variant observed in this case study was appeared at less than marker range (< D2S1338) with a size of 297.50 bp. The novel variant OMR allele at D2S1338 was labeled as allele 13, when compared to the other allele in allelic ladder. Moreover, the PFSA DNA database was searched for this unique allelic variation and it was found that this was present in only two other samples of distinct cases. Conclusion: The overall frequency of this unique allele variant was 3 in 10,125 unrelated individuals with frequency of occurrence of 0.0296. According to our limited knowledge it is the first report of a novel OMR allele variant at D2S1338 in Pakistani Population.

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“…Forensic DNA analysis for human identification and kinship studies rely on DNA profiles generated through amplification of 12-24 STR markers [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

A Unique Allele Variant at STR Locus D2S1338 in a Paternity Testing Case

Ahmad¹,

Ali²,

Siddique³

et al. 2021

AJFSFM

View full text Add to dashboard Cite

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Production and certification of NIST Standard Reference Material 2372 Human DNA Quantitation Standard

et al. 2009

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Modern highly multiplexed short tandem repeat (STR) assays used by the forensic human-identity community require tight control of the initial amount of sample DNA amplified in the polymerase chain reaction (PCR) process. This, in turn, requires the ability to reproducibly measure the concentration of human DNA, [DNA], in a sample extract. Quantitative PCR (qPCR) techniques can determine the number of intact stretches of DNA of specified nucleotide sequence in an extremely small sample; however, these assays must be calibrated with DNA extracts of well-characterized and stable composition. By 2004, studies coordinated by or reported to the National Institute of Standards and Technology (NIST) indicated that a well-characterized, stable human DNA quantitation certified reference material (CRM) could help the forensic community reduce within- and among-laboratory quantitation variability. To ensure that the stability of such a quantitation standard can be monitored and that, if and when required, equivalent replacement materials can be prepared, a measurement of some stable quantity directly related to [DNA] is required. Using a long-established conventional relationship linking optical density (properly designated as decadic attenuance) at 260 nm with [DNA] in aqueous solution, NIST Standard Reference Material (SRM) 2372 Human DNA Quantitation Standard was issued in October 2007. This SRM consists of three quite different DNA extracts: a single-source male, a multiple-source female, and a mixture of male and female sources. All three SRM components have very similar optical densities, and thus very similar conventional [DNA]. The materials perform very similarly in several widely used gender-neutral assays, demonstrating that the combination of appropriate preparation methods and metrologically sound spectrophotometric measurements enables the preparation and certification of quantitation [DNA] standards that are both maintainable and of practical utility.

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