ABC Forensic DNA key terms
ABC Forensic DNA · Get comfortable with the vocabulary.
- Alternate light source (ALS)
- Related: Presumptive test, Substrate control
A tunable or filtered lamp used to search items for stains that fluoresce or absorb light, helping examiners locate biological evidence before sampling.
- Presumptive test
- Related: Confirmatory test, Alternate light source (ALS)
A rapid, sensitive screening assay that suggests a biological fluid or cell type is present but does not prove identity; positive results guide confirmatory testing and sampling.
- Confirmatory test
- Related: Presumptive test
A specific laboratory method that verifies the identity of a biological fluid or cell type, such as prostate-specific antigen for semen or sperm microscopy, before DNA analysis proceeds.
- Substrate control
- Related: Negative control, Contamination
A sample taken from an unstained area of the same item or material as the evidence stain, processed alongside it to detect background DNA or reagent contamination.
- Touch DNA
- Related: Low-template DNA (LT-DNA)
DNA deposited by skin contact, often in very small amounts and mixed with background DNA, requiring careful collection, extraction, and interpretation to avoid misleading results.
- Low-template DNA (LT-DNA)
- Related: Stochastic threshold, Drop-out, Touch DNA
A sample containing very few amplifiable DNA molecules, commonly below about 100 picograms, where stochastic effects such as allelic drop-out and drop-in become likely.
- Differential extraction
- Related: Lysis buffer, Dithiothreitol (DTT)
A sequential lysis procedure that separates spermatozoa from other cells in sexual assault samples, producing a sperm fraction enriched for male DNA and an epithelial fraction.
- Lysis buffer
- Related: Proteinase K, Differential extraction
A solution containing detergents, salts, and buffers that disrupts cell membranes and releases DNA, often with proteinase K added to digest proteins during extraction.
- Proteinase K
- Related: Lysis buffer, Inhibitor
A broad-specificity protease used during DNA extraction to digest cellular proteins and nucleases, improving DNA yield and purity while protecting nucleic acids from degradation.
- Dithiothreitol (DTT)
- Related: Differential extraction, Lysis buffer
A reducing agent that breaks disulfide bonds in keratin and sperm protein coats, enabling efficient lysis and DNA release from spermatozoa and other tough tissues.
- Silica-based extraction
- Related: Inhibitor, Real-time quantitative PCR (qPCR)
A purification method in which DNA binds to silica membranes or beads in the presence of chaotropic salts, is washed, and then eluted in a low-salt buffer.
- Inhibitor
- Related: Internal PCR control (IPC), Silica-based extraction
A substance that interferes with extraction, amplification, or detection, such as humic acids, hematin, indigo dyes, or collagen, potentially causing failed or weak profiles.
- Real-time quantitative PCR (qPCR)
- Related: Internal PCR control (IPC), Amplification (PCR)
A PCR method that measures amplified product during each cycle, allowing estimation of human DNA concentration and sometimes degradation or male DNA content in a sample.
- Internal PCR control (IPC)
- Related: Inhibitor, Real-time quantitative PCR (qPCR)
A known template added to each amplification reaction to monitor for inhibitors and reaction failure, distinguishing a negative sample from an unsuccessful test.
- Multiplex PCR
- Related: Amplification (PCR), Allele
A single amplification reaction containing multiple primer pairs that simultaneously amplify several STR loci, conserving sample and time while producing a combined profile.
- Amplification (PCR)
- Related: Multiplex PCR, Capillary electrophoresis (CE)
Repeated cycles of denaturation, primer annealing, and extension that copy targeted DNA sequences exponentially, enabling STR analysis from small or degraded samples.
- Capillary electrophoresis (CE)
- Related: Electropherogram, Internal size standard, Allelic ladder
A separation technique that moves fluorescently labeled DNA fragments through a narrow polymer-filled capillary under voltage, separating them by size for laser detection.
- Electropherogram
- Related: Capillary electrophoresis (CE), Peak height (RFU), Stutter
A graphical output from capillary electrophoresis showing fluorescence peaks by size or scan number, from which alleles, peak heights, and artifact patterns are interpreted.
- Allelic ladder
- Related: Internal size standard, Genotype
A mixture of known alleles for every targeted STR locus, run with samples to calibrate fragment sizing and assign allele numbers by comparison.
- Internal size standard
- Related: Allelic ladder, Capillary electrophoresis (CE)
A set of labeled DNA fragments of known sizes added to each capillary injection, used to convert scan data into fragment sizes and align samples with the allelic ladder.
- Spectral calibration
- Related: Electropherogram, Peak height (RFU)
A procedure using fluorescent dyes or matrix standards to correct overlap among detection channels, ensuring that each dye's signal is accurately separated in the electropherogram.
- Stutter
- Related: Peak height (RFU), Mixture, Drop-out
A minor peak one repeat unit smaller than the true allele, caused by polymerase slippage during amplification, commonly evaluated when interpreting mixtures and low-level peaks.
- Amelogenin
- Related: Multiplex PCR, Genotype
A sex-typing marker on the X and Y chromosomes that produces different-sized fragments, commonly included in STR multiplexes to indicate the presence of X and Y DNA.
- Allele
- Related: Genotype, Heterozygote
One of the possible variants of a short tandem repeat locus, defined by the number of repeat units and typically named by its length in repeat units.
- Genotype
- Related: Allele, Heterozygote
The pair of alleles detected at a genetic locus in an individual sample, which may be homozygous, heterozygous, or show additional alleles from mixtures or artifacts.
- Heterozygote
- Related: Allele, Peak height (RFU)
A genotype with two different alleles at a locus, producing two peaks that may differ in height because of sequence, size, or amplification effects.
- Peak height (RFU)
- Related: Analytical threshold, Stochastic threshold
The fluorescence intensity of an allele peak measured in relative fluorescence units, used to assess signal strength, genotype balance, mixture proportions, and stochastic thresholds.
- Analytical threshold
- Related: Stochastic threshold, Peak height (RFU)
The minimum peak height at which a signal is considered a reliable allele rather than noise, established during validation for each laboratory's detection system.
- Stochastic threshold
- Related: Drop-out, Low-template DNA (LT-DNA), Analytical threshold
A peak height above which allelic drop-out at a heterozygous locus is unlikely, used to decide whether a profile is suitable for comparison or requires probabilistic interpretation.
- Drop-out
- Related: Stochastic threshold, Low-template DNA (LT-DNA), Mixture
Failure to detect an allele that is present in the sample, often because of low template quantity, degradation, inhibition, or poor amplification, leading to incomplete profiles.
- Mixture
- Related: Probabilistic genotyping (PG), Likelihood ratio (LR), Peak height (RFU)
A DNA profile containing alleles from two or more contributors, recognized by extra peaks, unbalanced heterozygotes, or allele counts exceeding the expected maximum at a locus.
- Likelihood ratio (LR)
- Related: Random match probability (RMP), Probabilistic genotyping (PG)
A statistical measure comparing the probability of the evidence under two hypotheses, such as prosecution and defense, with values above one supporting the first hypothesis.
- Random match probability (RMP)
- Related: Likelihood ratio (LR), Allele
The probability that a randomly selected unrelated person from a reference population would have a DNA profile matching the evidence profile by chance.
- Probabilistic genotyping (PG)
- Related: Likelihood ratio (LR), Mixture, Drop-out
A computational approach that models peak heights, drop-out, drop-in, and other stochastic effects to evaluate mixtures and calculate likelihood ratios under alternative hypotheses.
- Quality assurance (QA)
- Related: Quality control (QC), Validation
Planned activities and policies designed to ensure that laboratory processes, personnel, and results meet defined standards, including audits, training, validation, and document control.
- Quality control (QC)
- Related: Negative control, Quality assurance (QA)
Routine checks performed alongside casework, such as positive and negative controls, to verify that reagents, instruments, and procedures are working within acceptable limits.
- Validation
- Related: Quality assurance (QA), Analytical threshold, Stochastic threshold
A documented process demonstrating that a method, instrument, or software performs as intended for its forensic use, including sensitivity, specificity, reproducibility, and mixture studies.
- Negative control
- Related: Contamination, Quality control (QC)
A sample containing no target DNA, processed through extraction and amplification to detect contamination or reagent problems; it should produce no alleles.
- Contamination
- Related: Negative control, Substrate control
Introduction of exogenous DNA or amplified product into a sample or laboratory area, which can create false alleles, mixtures, or misleading associations.
- Chain of custody
- Related: Quality assurance (QA)
A documented, chronological record of who handled evidence, when, and for what purpose, preserving integrity and admissibility from collection through analysis and storage.