Phenomena called allele dropouts are often observed in crime stain profiles. Allele dropouts are generated because one of a pair of heterozygous alleles is underrepresented by stochastic influences and is indicated by a low peak detection threshold. Therefore, it is important that such risks are statistically evaluated. In recent years, attempts to interpret allele dropout probabilities by logistic regression using the information on peak heights have been reported. However, these previous studies are limited to the use of a human identification kit and fragment analyzer. In the present study, we calculated allele dropout probabilities by logistic regression using contemporary capillary electrophoresis instruments, 3500xL Genetic Analyzer and 3130xl Genetic Analyzer with various commercially available human identification kits such as AmpFℓSTR® Identifiler® Plus PCR Amplification Kit. Furthermore, the differences in logistic curves between peak detection thresholds using analytical threshold (AT) and values recommended by the manufacturer were compared. The standard logistic curves for calculating allele dropout probabilities from the peak height of sister alleles were characterized. The present study confirmed that ATs were lower than the values recommended by the manufacturer in human identification kits; therefore, it is possible to reduce allele dropout probabilities and obtain more information using AT as the peak detection threshold.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.legalmed.2015.07.006 | DOI Listing |
Int J Legal Med
January 2025
Laboratory of Forensic and Population Genetics, Legal Medicine, Psychiatry and Pathology Department, Medicine School, Complutense University of Madrid, Madrid, 28040, Spain.
Under the initiative of the "Direcció General de Memòria democràtica-Departament de Justícia" (Generalitat of Catalonia, Spain), a multi-disciplinar project was funded to identify the remains of people disappeared in Catalonia during and after the Spanish Civil War (1936-1939). Samples were officially sent by Autonomous Government of Catalonia to the Laboratory of Forensic and Population Genetics at Complutense University, Madrid, Spain, to be genotyped. Our study presents a database of 343 victims genotyped for STRs comprised in GlobalFiler™ PCR Amplification Kit (Thermofisher Scientific) and a subset of 292 typed with Y-STRs from Yfiler™ Plus PCR Amplification Kit (Thermofisher Scientific).
View Article and Find Full Text PDFBiotechniques
January 2025
Othram Inc, The Woodlands, TX, USA.
KinSNP v1.0, a software tool for human identification, has been widely used to measure IBD segment sharing between individuals using dense SNP data. Herein, the tool was validated using simulated pedigree data (up to 9 degree relationships) from five diverse populations from the 1000 Genomes Project.
View Article and Find Full Text PDFInt J Legal Med
December 2024
Engineering Research Center of Crime Scene Evidence Examination, Beijing, 100038, PR China.
Formalin-fixed tissues possess irreplaceable value as a source of DNA for identification, especially when fresh samples are unavailable. Nonetheless, extracting and amplifying DNA from these tissues is challenging, primarily due to formaldehyde-induced cross-linking and nucleic acid fragmentation. In this study, two pre-extraction treatments, gradual dehydration using ethanol and pre-digestion heat treatments, and three DNA extraction methods, the Chelex-100 method, TIANamp FFPE DNA Kit, and ML Ultra-micro DNA extraction kit, were utilized to optimize DNA extraction from different tissues, which were fixed in 4% unbuffered formalin for different durations.
View Article and Find Full Text PDFAnn Hum Biol
February 2024
Department of Human Anatomy, School of Basic Medicine, Shenyang Medical College, Shenyang, P.R. China.
Background: Short tandem repeat (STR) markers are widely used in forensic DNA analysis due to their ability to provide automated and standardised typing. However, incorrect STR typing can have a significant impact on forensic outcomes.
Aim: In this study, we detected drop-out alleles at the SE33 locus in a putative father-son pair using the Microreader 28 A ID System.
Forensic Sci Int Genet
January 2025
Department of Genetics, ELTE Eötvös Loránd University, Budapest, Hungary. Electronic address:
We performed an internal laboratory validation of the Precision ID GlobalFiler NGS STR panel v2 kit to assist the introduction of the technology into the routine forensic casework practice. The study was designed and evaluated based not only on the key validation standards like sensitivity, stability, reproducibility, repeatability, mixture, and concordance, but we also tested the effect of reduced input DNA, we measured and applied locus-specific analytical threshold values, tested two different PCR cycle conditions, sequence artifacts and stutters were also analysed. During the study we also tested the new method on real casework samples.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!