Glossary of Terms

  • Allele – An allele is one of two versions of a gene; we have two alleles for each gene, one from each parent. If the two alleles are the same, the individual is homozygous for that gene. If the alleles are different, the individual is heterozygous.
  • Amino Acids – These are the building blocks of proteins. Codons (3 nucleotides) give rise to one amino acid.
  • Bases / basepairs – DNA bases, or nitrogenous bases, are the molecules that extend out from one strand of DNA to another in order to form the double helix structure. These bases form the letter code that is unique to each individual. Each DNA base has its own letter designation
  • letter designation:
      • Adenine – A
      • Cytosine – C
      • Guanine – G
      • Thymine – T
  • The bases of DNA are selective in which base they can pair with. Adenine (A) can only form a base pair with thymine (T), and guanine (G) can only base pair with cytosine (C). 
  • Candidate Gene Studies – These types of studies focus on SNPs that have already been investigated in association with a specific trait. These studies use smaller populations than GWAS studies.
  • Cell machinery – Cell machinery refers to all of the components needed to go from DNA -> RNA -> proteins.
  • Cells – The basic structural unit that composes all living organisms, often called the ‘building blocks of life’. Most of the body’s 37 trillion cells have DNA, except for red blood cells which do not have a nucleus. Cell types differ based on their location, structure, and function in the body. Even though all cells have the same copy of DNA, each cell type uses this DNA differently to properly accommodate their surroundings.
  • Chromosome – A chromosome packages the DNA found in each cell. Chromosomes come in pairs and a normal human contains 46 chromosomes, which are identified as 23 pairs. We all get half of our chromosomes from our mother and half from our father.
  • Codon – Sequence of three nucleotides which will specify which amino acid will be added to each protein. A single codon specifies a single amino acid. We can think of these codons as words.
  • DNA – DNA is a molecule that contains the genetic instructions used in the development and functioning of all organisms; this molecule makes us unique. Most of our DNA is located in the cell nucleus and almost every cell has the same DNA. To carry out the important functions that an organism needs, DNA sequences are converted into messages that are read to produce proteins.
  • DNA replicationThis is the process by which two identical replicas from one original DNA molecule are produced. This process occurs in all living organisms and is essential for life. This process will result in two exact duplicate strands of DNA, each consisting of one of the original parent strands and a new daughter strand.
  • Epigenetics – The term epigenetics refers to changes in gene expression that does not involve changes to the DNA code. Chemical reactions activate and deactivate parts of the genome at specific times and locations to produce epigenetic changes. Therefore, epigenetics is a change in phenotype without a change in genotype. Epigenetic changes are regular but they can also appear due to influences of various factors such as age, lifestyle, and disease.
  • Gene – Genes are portions of DNA that are responsible for making a particular protein through the processes of transcription and translation. Human genes contain the specific information needed to make a trait, and are passed down from parents to their children.
  • Gene Doping – Defined by the World Anti-Doping Agency as “the non-therapeutic use of cells, genes, genetic elements, or of the modulation of gene expression, having the capacity to improve athletic performance.”
  • Genome – The genome is the entire set of genetic material found in each human. In humans, the genome is made up of 23 pairs of chromosomes. More than just genes, our genome includes genetic code used by the cell to regulate how and when to read the code found in each gene.
  • Genotype – A genotype is made of the two alleles inherited for a particular gene. The expression of different genotypes contributes to an individual’s phenotype.
  • GWAS Studies – These are studies that focus on associations between SNPs and traits. These studies normally compare the DNA of two groups of participants: people with a specific trait and similar people without it. If one allele is more frequent in people with the trait, the SNP is said to be “associated” with this trait. Each study can look at hundreds or thousands of SNPs at the same time and in very large populations.
  • HeritabilityHeritability is the proportion of observed differences because of genetic differences among individuals. You have two copies of each gene – one from your mom and one from your dad. Genetics, environment and random chance can all contribute to the variation of phenotypes between individuals.
  • Heterozygous – An individual is heterozygous when they inherit different alleles for a particular gene from each parent. E.g. AG, not AA or GG
  • Homozygous – An individual is homozygous when they inherit the same alleles for a particular gene from each parent. E.g. AA or GG, not AG
  • Nucleotides – The alphabet of DNA is composed of 4 different nucleotides (A, C, T, and G), which are the structural components or building blocks of DNA. It takes 3 of these letters (nucleotides) to make a word (nucleotide) in DNA.
  • Nucleus – The nucleus is an organelle found in all human cells. This organelle contains most of the cell’s genetic material and it is the main control centre of the cell.
  • Phenotype – The phenotype of an organism is the observed traits of an organism; these traits can be seen and measured, such as hair, eye colour or athletic performance.
  • Proteins – Proteins are large molecules that are made of one or more chains of amino acids. Proteins perform various roles that are critical for survival. They do most of the work in cells and are required for regulating our organs and tissues as well as giving rise to phenotypes.
  • Regulation – Gene regulation is the process of turning genes on and off. This process ensures that genes are expressed at proper times. This regulation can also be useful when responding to different environments.
  • RNA – RNA is a molecule that is essential for life (along with DNA and proteins). During the process known as transcription, DNA is copied into RNA; this strand of RNA can then be made into a protein.
  • Single Nucleotide Polymorphism / Gene Marker – Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation among people. Each SNP represents a difference in a nucleotide. For example, a SNP may replace the nucleotide C with the nucleotide T. Cells sometimes make mistakes during DNA replication (typos); these typos lead to SNPs. Some SNPs lead to differences in health or physical appearance, but most SNPs seem to show no observable differences between people at all.
  • Transcription – Cell machinery first step of decoding DNA in RNA (Transcription). DNA is copied into RNA. We call this step the “prepping” process.
  • Translation – During translation, RNA (produced by transcription from DNA) is made into a specific protein. We call this step the “cooking” process.


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