GLOSSARY
Our glossary is the perfect tool to help make sense of DNA testing.
- Accreditation: Recognition of testing competence
- Allele: One of two or more alternative forms of a gene
- Autoimmune disease: Condition where an individual’s immune system mistakenly attacks its own cells
- Autosomal recessive: Two copies of an abnormal gene must be present for the disease or trait to develop
- Biological relationship: Genetically related individuals
- Buccal: Relating to the mouth
- Cardiovascular disease: Class of diseases that involve the heart or blood vessels
- Carrier: Generally unaffected Individual who has one copy of an abnormal gene and one copy of a normal gene
- Chain of custody: Documented collection, storage, transport and analysis of a DNA sample
- Chromosome: Threadlike structure of DNA found in the nucleus
- Colorectal cancer: Cancer within the colon or rectum (parts of the large intestine)
- Compound heterozygous: Individual who has two copies of an abnormal gene, but each copy carries a different mutation (variant)
- Cytokine: Small cell signalling molecule
- DNA: Hereditary material in humans and almost all other organisms
- Encodes: Provides instructions for a specific protein
- Enzyme: Molecule that accelerates biochemical reactions within our cells
- Exclusion: No possibility of a biological relationship
- Food intolerance: Detrimental reaction to a food, beverage, additive or other food compound
- Gene: Region of DNA that acts as instructions to make proteins
- Genetic marker: Specific DNA sequence with a known location on a chromosome
- Genotype: Particular gene or set of genes carried by an individual
- Genome: Complete set of genes or genetic material present in a cell of organism
- Gluten: Family of proteins found in grains like wheat, rye, spelt and barley
- Heterozygous: One copy of an abnormal gene and one copy of a normal gene
- Homozygous: Two identical copies of a gene – either homozygous normal or homozygous mutation (variant)
- Inclusion: Confirmation of a biological relationship
- Maternity: State of being someone’s mother
- Mitochondria: Organelle within a cell that is strictly inherited from an individual’s mother (useful for tracing maternal lineages)
- Mutation: Genetic defect that results in a disease phenotype
- Neurological disorder: Disorder of the the nervous system – brain, spinal cord or other nerves
- Nucleotide: Building block of nucleic acids (e.g. DNA)
- Paternity: State of being someone’s father
- Phenotype: Description of your physical characteristics
- Polymerase chain reaction (PCR): Technique used in molecular biology to create multiple copies of DNA from a sample
- Protein: Biomolecules with a vast array of functions
- Pseudodeficiency mutation: Genetic defect that causes abnormal results during laboratory assays, but does not cause disease
- rs number: Reference number for each genetic variant
- Sensitivity: Proportion of positives that are correctly identified as such (true positive rate)
- Short tandem repeat (STR): Region of DNA in which a short DNA sequence is repeated multiple times
- Single nucleotide polymorphism (SNP): Variation of a single nucleotide (DNA building block)
- Specificity: Proportion of negatives that are correctly identified as such (true negative rate)
- STR profile: Shows the number of repeats and each STR marker tested
- Variant: Alteration in the most common DNA sequence
- Variable number tandem repeat (VNTR): Short nucleotide sequence is organized as a tandem repeat
- Wildtype: Typical (normal) phenotype of a species
- Y-DNA: DNA found on the male Y-chromosome (passed from father to son and useful for tracing paternal lineages)
