Genomics uses a lot of jargon that can be hard to understand for those not trained in the field. Our simple glossary has definitions for important or frequently encountered concepts in genomics.
Different mutations in the same gene can lead to the same disease. For example, Duchenne Muscular Dystrophy is caused by large deletions in the dystrophin gene 70% of the time but other mutations in this dystrophin gene can lead to the same disease presentation.
Alternative splicing view
The process where the initial strand of RNA copied directly from DNA is cut up (spliced) and pieced together into different messages (mRNAs) and can lead to different proteins from the same region of DNA. Thus, one gene can be the source of several proteins that differ in function or time and place of action.
Amino acid view
The building blocks for proteins. Composed primarily of carbon, hydrogen oxygen and nitrogen, these organic molecules all contain a basic amino group (NH2) and an acidic carboxyl group (COOH) and hence, the truly logical moniker, amino acid. To keep on living and loving, we humans need 20 of them. Each amino acid contains a unique side chain that varies from the single hydrogen atom of glycine to the sulphur-containing side chains of cysteine and methionine. Our bodies make 12 and we get the other 8 (the 8 essential amino acids) from our food.
A prenatal procedure that can examine the DNA of a fetus. It involves removing a small amount of fluid from around the developing baby (amniotic fluid) with a needle into the uterus. The amniotic fluid has some of the baby’s cells that can undergo various lab tests. It can diagnose genetic disorders based on chromosomes such as Down syndrome or conditions with smaller gene mutations like cystic fibrosis.
The fluid surrounding the fetus in the uterus. It is mostly water but also has cells sloughed off from the fetus, secretions from the placenta and fetal urine. These fetal cells can be examined for chromosomal and genetic disorders.
The body’s method for disposing of unwanted cells. Otherwise known as programmed cell death, apoptosis is a deliberate ‘suicide’ where a cell dies in an organized way. This is in contrast to necrosis, the ‘messy and violent’ form of cell death. Apoptosis is important when there are a lot of changes such as during fetal development.
Disease in which the immune system confuses the patient’s own cells for foreign cells and attacks them.
This is a process used in research to create a plant/animal that is genetically very similar to one of the parents. Offspring are mated with one of their parents or a plant/animal that is genetically similar to the parents to create a plant/animal with similar genetic backgrounds.
Base pair view
A base is the variable component of a nucleic acid. DNA contains the four bases thymine (T), cytosine (C), adenine (A) and guanine (G). These bases form base pairs along the length of the DNA helix. A pairs with T, while G pairs with C. The order of these bases (ATCG) composes the DNA sequence.
BLAST stands for Basic Local Alignment Search Tool and is a computer program that compares DNA or protein sequences. When you enter your favorite sequence, BLAST searches a database of biological sequences for similar sequences. This allows researchers to identify similar genes in the same or other organisms.
BReast CAncer 1 and 2 genes are examples of tumour suppressors that normally help to restrain cell growth. When these genes are mutated and inactivated, cells can grow too much and cancer develops. Someone who has inherited a mutation in BRCA1/BRCA2 has an increased risk of breast (for both women and men), ovarian or prostate cancer.
Malignant, ill-regulated proliferation of cells causing either a solid tumour or other abnormal conditions. Usually fatal if untreated. Cancer cells are abnormal in many ways particularly in their ability to multiply indefinitely, to invade underlying tissue and to migrate to other sites in the body and multiply there (See: metastasis).
A gene suspected to cause or contribute to a disease. The gene’s function and place of action should suggest a role in the disease in question. For example, the gene coding for a protein that works in the brain and regulates neuron transmitters may be a good candidate for causing depression.
A sugar molecule. Carbohydrates can be small and simple (for example, glucose) or they can be large and complex (for example, polysaccharides such as starch).
Carrier (of a genetic disease)
Someone who has a disease-causing mutation in their DNA but does not show any symptoms. One way this happens is in recessive disorders when someone has one healthy and one faulty version of the disease-causing gene.
Chorionic Villus Sampling (CVS)
A prenatal procedure that cultures tissue that can be used to examine the DNA of fetal cells from the placenta (chorionic villi). CVS is commonly used to diagnose chromosome conditions like Down syndrome.
A complex of macromolecules found in cells, consisting of DNA, protein and RNA. The primary functions of chromatin are 1) to package DNA into a smaller volume to fit in the cell, 2) to reinforce the DNA macromolecule to allow mitosis, 3) to prevent DNA damage, and 4) to control gene expression and DNA replication.
Two different versions of a gene contribute to the final trait so that neither version is masked by the other. For example, if a woman with blood type A passed on the A allele and a man (blood type B) passed on a B allele, their child would be AB.
Three adjacent bases (letters) in mRNA that “code” for a particular amino acid in protein translation. There are 64 possible 3-letter combinations of the bases but only 20 amino acids, so several of the codons code for the same amino acid.
A property of nucleic acids, whereby adenine (A) always pairs with thymine (T) while cytosine (C) always pairs with guanine (G). Two strands of DNA that pair perfectly are called complementary.
Genes similar across species; that is, conserved through evolution. So they are likely well-used and necessary for survival. For example, all organisms have very similar genes handling DNA through cell division.
A chemical bond formed by the sharing of electrons between two atoms.
CRISPR stands for clustered regularly interspaced short palindromic repeat and is a customizable tool that lets scientists cut and insert small pieces of DNA at precise areas along a DNA strand. The tool is composed of two basic parts: the Cas9 protein, which acts like the wrench, and the specific RNA guides, CRISPRs, which act as the set of different socket heads. These guides direct the Cas9 protein to the correct gene, or area on the DNA strand, that controls a particular trait.
A process that occurs during meiosis. Two members of a chromosome pair twist around one another and exchange genetic information. Genetic material is ‘shuffled’ so that each gamete contains a unique combination of its parent’s genes. It’s how, for example, our grandparents traits are shuffled; we can have our maternal grandmother’s eyes but grandfather’s hair colour.
Cystic Fibrosis (CF)
An inherited condition in humans caused by a recessive genetic defect. CF is characterized by the build up of thick, sticky mucus that can damage many of the body’s organs. The disorders most common signs and symptoms include progressive damage to the respiratory system and chronic digestive problems.
The characteristic of an organism or cell having two complete sets of chromosomes in each cell. For example, humans have one set of chromosomes from dad and the other from mom, hence also have two alleles of each gene. Compare to: haploid.
DNA fingerprint view
A technique used for identification, for example in paternity tests or crime scene investigations. Relatively large amounts of DNA are isolated and cut by restriction enzymes. The lengths of the resulting DNA fragments are characteristic of each individual (see SNP). Note: this technique has been essentially replaced by other types of DNA profiling.
A technique used to identify a person based on their DNA. Fragments of the DNA are amplified using PCR and the lengths of the resulting DNA pieces are characteristic of each individual. Because of the PCR step, only very little amounts of DNA are needed for DNA profiling. Compare to: DNA fingerprint.
An enzyme that can make new DNA strands from an old strand/template. There are several DNA polymerases in our cells; and although they have slightly different functions, they all are involved in DNA replication.
Refers to the allele that is expressed when two different alleles are found together. For example, in the wet and dry alleles for ear wax consistency, wet is the dominant one. So when someone has one wet and dry allele, he has wet ear wax. Compare to: recessive.
Also called trisomy 21. A chromosome defect that is characterized by the presence of an extra copy of chromosome 21 in a patient’s cells. Down syndrome causes delayed mental and physical development and is associated with characteristic facial features.
Multicellular animal or plant before it is fully formed and capable of independent life. It develops into a free-living miniature adult or larva, in animals, or germinates into a seedling, in plants.
A biological catalyst: a protein that can speed up chemical reactions without getting chemically changed itself. Human saliva contains an enzyme called amylase that speeds up the chemical reaction of converting starches in our food to sugars.
Processes by which modifications in a gene function that can be inherited by a cell’s progeny occur without a change in the DNA nucleotide sequence. Such modifications include DNA methylation, heterochromatic formation, genomic imprinting and X-chromosome inactivation.
The study of the complete set of epigenetic modifications on the genetic material of a cell, known as the epigenome.
Exome sequencing (also known as Whole Exome Sequencing or WES) is a technique for sequencing all the protein-coding genes in a genome (known as the exome). The exome comprises about 1% of the genome and is, so far, the component most likely to include interpretable mutations that result in clinical phenotypes.
The region of RNA that is translated into protein. In eukaryotes, the primary RNA usually contains several exons that are separated by introns. Before the RNA is translated, the introns are removed and only exons remain. Compare to: intron.
Expressivity (Variable expressivity)
The process of the same mutation leading to different disease manifestations. For example, the same mutations in a breast cancer gene (BRCA1) can lead to breast or ovarian cancer.
Fetal Ultrasound Markers
A variation of normal fetal anatomy detected on ultrasound. Soft markers are not abnormalities and are seen in healthy, normal pregnancies but when a soft marker is seen, it increases the risk that there is a chromosome problem in the baby. For example, extra fluid behind a baby’s neck (called ‘nuchal translucency’) can be seen in healthy, unaffected babies but is more common in babies with a chromosome problem, such as Down syndrome.
A technique to separate biological molecules such as DNA or protein based on their size. An electrical gradient is applied to a semi-solid matrix (the gel) and molecules begin to migrate based on their electrical charge. Because of their smaller size, short pieces of DNA or protein travel through the gel faster.
The fundamental unit of inheritance. Genes encode messages for the synthesis of proteins and functional RNAs. Genes help determine an organism’s appearance, its metabolism and may interact with the environment to influence its behaviour.
The “switching on” and transcription of a gene into RNA. Sometimes this RNA can be functional on its own but usually it’s converted into a protein. Either way, the gene’s information is out there to impact the individual’s phenotype.
A set of genes similar in DNA sequence. Their similarity is presumably due to their evolution from a single ancestral gene that duplicated. Although these gene products gained or lost functions over time and became slightly different from their common ancestor, remnants of the ancestral gene are still present in all family members.
The intentional removal or disruption of function of a gene from an organism’s DNA. For example, a p53 knockout mouse lacks the gene encoding for the p53 protein. Knockout mice are often used to study the function of the knocked-out gene by noting what differences are observed in the mutated mouse relative to a normal mouse.
Gene therapy view
The process of replacing ‘faulty’ genes involved in inherited diseases with ‘corrected’ versions. For example, Glybera is gene therapy designed to restore the enzymatic activity of lipoprotein lipase, a protein required to enable the metabolism of fat from fat carrying particles made in the intestine following a meal.
Health professionals that provide information and support to families at risk for or affected by a genetic condition. Genetic counselors translate complex genetic information into everyday language to help people make informed decisions about the issue at hand. They strive to discuss information and present options in a non-biased way to encourage patients to make decisions fitting with their own personal values and beliefs.
The direct manipulation of an organism’s DNA; in contrast to traditional breeding, where the DNA is manipulated indirectly. Many different techniques are used in genetic engineering, including the examples of gene knockouts and transgenic organisms.
Using tests to diagnose or determine the predisposition to a genetic disease. The type of test can vary and includes tests directly on DNA, as well as biochemical tests that analyze proteins or metabolites linked to genetic diseases. The tests can also be used to prove paternity.
Genetically Modified Organism (GMO)
Organisms that have had their DNA altered by genetic engineering. When scientists generate GMOs, they combine existing pieces of DNA in new ways to give an organism new characteristics.
Genomics is the science that aims to decipher and understand the entire genetic information of an organism (ie: plants, animals, humans, viruses and microorganisms) encoded in DNA and corresponding complements such as RNA, proteins and metabolites. Broadly speaking, this definition includes related disciplines such as bioinformatics, epigenomics, metabolomics, nutrigenomics, pharmacogenomics, proteomics and transcriptomics.
When the expression of the maternally derived or the paternally derived allele of a gene is supressed in the embryo. Gene inactivation is correlated with increased DNA methylation of the gene.
The group or line of cells that gives rise to reproductive cells (sperm or eggs). Mutations in the germline are passed on to future generations. Cells that are not part of the germline are called somatic cells.
The characteristic of an organism or cell having only one set of chromosomes and therefore only one allele of each gene. Human sperm and egg cells, for example, are haploid. When they combine during fertilization, they form a diploid (containing two sets of chromosomes) embryo. Compare to: diploid.
Is an expression of how much of the variation in a trait in a population is due to genes as compared to how much is due to environment. If a trait has a high heritability it generally means that genetic factors strongly influence the amount of variation.
An individual having two different alleles of the same gene. Cystic Fibrosis (CF) is an example of an inherited condition in humans caused by a recessive genetic defect. The parents of an individual with CF carry one disease allele (recessive) and one functional allele (dominant). Hence the parents are heterozygous for the trait manifesting in CF. Compare to: homozygous.
Densely coiled chromatin that appears in or along chromosomes.
An individual having two identical alleles of a particular gene. Albinism is a common example a recessive trait in which there is an absence of pigmentation in animals that are normally pigmented. Recessive traits only appear if an individual is homozygous for the corresponding gene. Compare to: heterozygous.
Human genome project view
An international effort to map and sequence all human genes. The project first began in 1990 and was declared completed in 2003, although work continues on certain aspects. The motivation behind the project was that sequencing and identifying all human genes would help us to better understand the genetic roots of disease and find ways to diagnose, treat and perhaps prevent many diseases.
Huntington’s disease view
An inherited brain disorder where there is a gradual loss of brain cells that causes symptoms like movement and walking problems, personality changes and cognitive impairment. It is inherited in a dominant pattern which means that an individual who has Huntington’s Disease has a 50% (1/2) chance of passing the faulty gene to their child.
Biological processes and reactions occurring in either (i) cells or tissues grown in culture or (ii) cell extracts or synthetic mixtures of cells components. Compare to: in vivo
In Vitro Fertilization (IVF)
A reproductive technology where sperm fertilize the egg in a laboratory dish and the fertilized eggs are put into a uterus for pregnancy to be established.
A process occurring in a living organism. Compare to: in vitro.
The number of new cases of a condition that occur over a defined period of time. For example, the incidence of the birth defect ‘club foot’ is about 1 in 1000 live births. Compare to: prevalence.
Passed down from parents to offspring through generations. The genes present in the parents are passed down to their offspring through egg or sperm cells. Traits may be inherited in different patterns such as x-linked inheritance, autosomal recessive or autosomal dominant inheritance.
The basic resistance to disease or the first line of defence against infections. It is non-specific and doesn’t depend on previous exposure. Our skin is an important part and skin’s physical barrier and low pH inhibits microbial growth. Our body temperature can also be involved by inhibiting the growth of invaders and a fever will kill even more microorganisms.
Intracytoplasmic Sperm Injection (ICSI) view
Intracytoplasmic sperm injection (ICSI) is a type of assisted reproductive technology (ART) that involves injecting a single sperm directly into the cytoplasm of the egg. This technique is often used to help overcome male infertility, in particular when the man has slow-moving, abnormally formed or low levels of sperm.
An older (and now rarely used) term referring to noncoding DNA. These DNA segments were thought to be useless because their function was unknown however we are now beginning to understand that most of our ‘junk’ DNA is actually an important and crucial part of our genetic make-up.
The characteristic set of chromosomes for a particular species. Chromosome number, shape and size all determine the species’ karyotype. For example, humans have 46 chromosomes: two pairs each of chromosomes 1-22 and a pair of sex chromosomes.
A diverse class of compounds found in all living cells whose main biological functions include storing energy, cellular signalling, and acting as structural components of cellular membranes.
An assembly of both proteins and lipids that functions to transport water insoluble fats throughout the vascular and lymphatic systems.
Lipoprotein Lipase (LPL)
An enzyme that plays a critical role in transporting fats and breaking down fat carrying molecules called lipoproteins.
A monk who lived from 1822-1884 and developed the first understanding of the basics of inheritance in sexually reproducing organisms by conducting crossing experiments on pea plants. He provided a collection of experimental observations that were translated into generally applicable rules describing how some traits are transferred between generations.
A set of principles of inheritance derived from the work of Gregor Mendel. In short, these principles state that alleles separate into gametes such that each gamete contains only a single copy of a gene (segregation). Furthermore, the alleles of different genes separate into gametes independently and do not sort based on the inheritance of other genes (independent assortment).
Any chemical compound involved in or a product of metabolism.
The migration of cancer cells to colonize tissues and organs other than those in which they originated.
Microarray (DNA) view
A slide or membrane with small bits of DNA of known sequence fixed to it. Allows detection of genetic sequences by complementary binding of unknown DNA samples that are being tested.
Cell division that produces two daughter cells with chromosomes, and therefore DNA that is identical to the parent cell. Mitosis is the mechanism by which somatic cells are produced. Compare: meiosis.
Proteins that assist in the correct folding or transport of other proteins. This helps to make sure proteins and macro molecular structures are assembled properly and in the right place so they are useful to the cell.
The condition of missing one chromosome of a pair. In humans, this is usually lethal except in Turner’s syndrome where women have one X chromosome instead of the usual two X chromosomes. (Occasionally also used to refer to missing a part of a chromosome.)
A system that uses mice as the experimental organisms to answer a question about biology. Mice are used because their genomes have been well studied. There are currently many mouse models available for research that mimic human diseases like obesity, cancer and neurological conditions like Huntington’s disease.
Refers to a biological or physiological observation that is attributable to many factors. For example, some traits are determined by the interplay between genes and environment. Most common traits like skin colour and height are multifactorial. Although your genes give a rough estimate of your height, environment can also impact your height because if you don’t have adequate nutrition during childhood, you will likely not reach your height potential.
Organic compound made up of a purine or pyrimidine (base) joined to a sugar. Nucleosides are structurally very similar to nucleotides, but, unlike them, they do not contain any phosphate groups.
Organic compound made up of a purine or pyrimidine (base) joined to a sugar and a phosphate group. Nucleic acids (DNA & RNA) contain nucleotides linked together in long chains. Compare to: nucleoside.
The study of the interaction between diet, genes and environment and how they affect human health.
A gene that, when mutated, can promote growth beyond the cell’s normal needs, thus leading to tumours. For example, a growth factor gene that is always expressed, even when there is no signal for growth, can cause a cell to grow beyond its normal limits. Compare: tumour suppressor.
Open Neural Tube Defect (ONTD)
A birth defect characterized by incomplete development of the spinal cord or the brain. The most common ONTD is Spina Bifida, a condition where the vertebrae do not fully enclose the spinal cord.
A sub-cellular structure in eukaryotic cells with specialized function. These membrane-bound compartments are sometimes compared to organs in the human body where each system has a different job. Examples include mitochondria, Golgi complex, endoplasmic reticulum, lysosome, peroxisome and the nucleus.
An organism that lives in or on another organism (its host) and benefits by deriving nutrients at the host’s expense.
Describes the biological mechanism(s) and pathways that lead to a diseased state, including entry of the virus into the body, multiplication and spread, and triggering an immune response.
The proportion of individuals carrying a particular genotype that express the associated phenotype. Important for genetic diseases because complete penetrance means that 100% of people with the disease mutation will have the associated phenotype.
A covalent bond joining the alpha-amino group of one amino acid to the carboxyl group of another with the loss of a water molecule. It is the bond linking amino acids together in a protein chain.
A branch of pharmacology concerned with using DNA and amino acid sequence data to inform drug development and testing. An important application of pharmacogenomics is correlating individual genetic variation with drug responses.
Polygenic traits are affected by more than one gene. Phenotype variation in some traits is due to the interaction of many genes, each with a small additive effect on the character in question. For example, it is currently believed that there are at least 11 genes involved in the determination of skin colour.
Polymerase Chain Reaction (PCR)
A technique for selectively and rapidly replicating a particular stretch of DNA in vitro to produce a large amount of that particular sequence.
Literally: occurrence of different forms. This can mean different things depending on the field of study.
(Genetics) presence of variation in DNA sequence. For example: see Single Nucleotide Polymorphsim.
(General Biology) presence of individuals with different phenotypes in a colony, population or species.
A diverse class of high-molecular-weight carbohydrates formed by the covalent linking together of monosaccharides into linear or branched chains.
Preimplantation Genetic Diagnosis (PGD)
A technology that allows embryos created by in vitro fertilization to be tested for a genetic condition before transferring them to a uterus. PGD is an option for couples who are at risk of passing on a genetic condition. Once the embryo has grown to the 8-16 cell stage, one cell is removed and genetic testing is done. Only those embryos that are not affected with the genetic condition tested for are implanted.
The total number of existing cases of a disease or condition in a population at a specific point in time. For example, the World Health Organization estimates that over 177 million people have diabetes. Compare to: incidence.
A short nucleic acid chain that serves as a starting point for the copying of DNA (DNA replication). This short stretch of DNA or RNA is complementary to part of the DNA that is about to be copied, and binds to it to allow attachment of the other machinery needed (e.g. DNA polymerase) to copy the DNA.
An organism that consists of cells which do not have membrane-bound organelles. Most prokaryotes are single-celled organisms. Importantly, the DNA of prokaryotes is found loose in the cell rather than in a nucleus. Compare to eukaryote.
A region of DNA located at the beginning (5’ end) of a gene. It contains sequences important in starting transcription. Mutations in the promoter region may cause incorrect expression of the gene and can lead to disease.
Large organic molecule made up of various combinations of amino acids. Proteins support living organisms’ shape and structure; carry messages within cells and between them; and as enzymes they regulate the chemical processes that sustain life.
The science that studies which proteins of the genome are expressed and when. Initially aimed at cataloguing the proteins present in a cell under various conditions, proteomics has joined up with genomics to try to understand how the expression of the genome enables all the complex functions of the cell to work.
A heritable characteristic controlled by genes that is expressed in offspring only when inherited from both parents (ie. Homozygous recessive).
Restriction Fragment Length Polymorphism (RFLP)
A size difference (length polymorphism) among fragments after DNA has been cut with restriction enzymes. Each cut piece is a restriction fragment and each fragment size is affected by DNA sequence. For example, if a target sequence is present, the restriction enzyme will cut the DNA molecule; if a target sequence is missing, the DNA won’t be cut and the fragment will consequently be longer. This characteristic has been important in creating lab tests for paternity and for DNA fingerprinting.
Ribonucleic Acid (RNA) view
A long nucleic acid molecule found in the nucleus and cytoplasm of a cell. Similar to DNA, RNA consists a sugar-phosphate backbone with nitrogenous bases. RNA differs from DNA by having a different sugar in its backbone (ribose instead of deoxyribose); having uracil as a base instead of thymine; and functioning as a single-stranded molecule instead of a double-stranded helix. One function of RNA is to convey genetic information, encoded by DNA, to the protein synthesis machinery. This process is known as translation and involves three types of RNA that work together to achieve this task: mRNA, rRNA and tRNA.
The probability of a negative event occurring. For example, women have a 12% risk of developing breast cancer over their lifetime. The perception of risk can vary between different people. With our example, some people might think 12% is a low risk where as others might think it is a high risk.
A term used to describe how contagious an infectious disease is by representing the average number of people infected by one infectious individual.
Having an intermediate phenotype in an individual that has a heterozygous genotype for a particular trait. For example, degree of hair curliness is semidominant: if “A” represents curly hair, and “a” represents straight hair, an individual who has an “Aa” genotype would have wavy (i.e. not curly but not straight, rather intermediate) hair.
The study of serum and other body fluids, and usually refers to the diagnostic identification of antibodies in the serum. For example, serology can be used to see if a patient has developed antibodies in response to an infection.
Sex-linked traits view
The tendency of certain characteristics to appear in one sex. Traits encoded by genes on one of the sex chromosomes (X or Y chromosomes in humans) can be expressed differently in males and females because males have an X and a Y chromosome, whereas females have two X chromosomes.
Single Nucleotide Polymorphism (SNP)
A variation in a single base (A, T, C or G) within a sequence of DNA. For any single base variation to be called a SNP the minor allele must be found in more than 1% of the population. So far more than 6 million SNPs have been discovered in the human genome. SNPs do not generally cause disease directly but some SNPs may indicate an individual’s susceptibility to disease or the response to drugs and other treatments.
Somatic Cell Nuclear Transfer (SCNT)
A laboratory method for creating clones of animals. SCNT requires 2 donors: a nucleus and an egg. The egg is stripped of its nucleus and the donor nucleus is placed inside. Because the donor nucleus is diploid, whereas normal egg cells are haploid, the egg is “tricked” into behaving as if it were fertilized. This leads the egg to divide and differentiate, resulting in an embryo that will develop into a copy (clone) of the organism that donated the nucleus.
A condition where the bones of the spine (vertebrae) do not close properly around the spinal cord so part of the spinal cord is exposed and nerve damage occurs. The extent of damage depends on the size and location of the vertebrae gap. Spina bifida can occur alone or as part of a syndrome with other multiple birth defects. The exact cause of spina bifida is unknown. However, it is thought that both environmental and genetic factors play a role (multifactorial inheritance).
Rare or unpredictable. In genetics, specifically means that it is not known to be inherited. For example, if one person in a family had a genetic condition that was not found in any other family members, they may be referred to as having a sporadic case of that condition.
A cell that has the ability to self-renew or divide indefinitely. Stem cells can also develop into other specialized cell types. There are several classifications: totipotent, pluripotent, and multipotent.
A region of repetitive DNA at the end of a linear chromosome that serves to protect the end from deterioration or destruction. In somatic cells, with each round of cell division, telomeres get shorter and once they become too short to protect the ends of the chromosomes, cell division may be prevented, or cells may die.
A characteristic that an individual possesses. It could be a personality or behavior trait (like being warm and friendly), intelligence (a high IQ score) or a physical feature (like red hair or height). Genes may or may not have a determining role in a trait.
Transfer RNA (tRNA)
RNA responsible for bringing amino acids to the ribosome and working with the mRNA and rRNA to make an amino acid chain. tRNA transfers the amino acid to the growing protein chain during translation. Each tRNA molecule is specific to a certain amino acid.
The process of producing proteins from the information stored on an mRNA molecule. In other words it is the process of translating from the language of nucleotides to the language of proteins.
The transfer of part of a chromosome onto another nonhomologous chromosome. Translocations may be balanced (having the right amount of chromosome material) or unbalanced (having too much or too little chromosome material). A reciprocal translocation is where two nonhomologous chromosomes exchange material.
A segment of DNA that can remove itself from a chromosome and insert itself somewhere else in the genome, i.e. it can ‘jump’ from one place in the genome to another. Transposons can also move between organisms. They play a role in the transfer of antibiotic resistance among bacteria and can cause disease by creating mutations.
Triplet repeat expansion
Triplet repeats are 3 nucleotides that are repeated a number of times (e.g., TACTACTACTACTAC). Triplet repeat expansion is when extra repeats are added (e.g., more TACs). If this large repeat is within a gene, it can cause disease (e.g. Huntington’s disease).
The occurrence of an extra chromosome (ie: third copy of a particular chromosome) in the total chromosome count of an individual. People typically have two copies (disomy) of all of their chromosomes. Often, having trisomy of a full chromosome is not compatible with life except for an additional chromosome 21 (Down Syndrome) or extra sex chromosomes.
A growth resulting from the abnormal proliferation of cells. It may be self-limiting or non-invasive, when it is called a benign tumour. A malignant tumour or cancer is when a tumour proliferates indefinitely and invades underlying tissues and metastasizes.
Tumour Suppressor Gene
A normal gene that controls how often and how fast a cell divides. If both copies of a tumour suppressor gene are inactivated, the growth of the cell may go out of control and become a tumour.
A technology that uses sound waves to create a picture. An ultrasound technician (sonographer) uses a hand-held wand (transducer) to direct sound waves at the internal body part of interest. The reflection or return of these waves creates a black/white image. Fluid appears black, solid material like bone appears white and other tissues, like most organs, appear as shades of grey.
In female mammals, the organ in which the embryo develops and is nourished before birth. In other mammals, the uterus is an enlarged portion of the oviduct modified to serve as a place for development of young or of eggs.
Variable-Number Tandem Repeat (VNTR)
Catch-all term for repeats in the genome. Generally not associated with disease, these repeats are used in DNA profiling because the sequences vary in length between people. VNTR sounds complicated, but the phrase simply means, “repeats that vary in size”.
An intracellular obligate parasite that is unable to multiply or express its genes outside a host cell as it requires host cell enzymes to aid DNA replication, transcription and translation. Viruses cause many diseases of man, animals, plants and bacteria.
Whole-genome sequencing (WGS)
A comprehensive method for analyzing entire genomes. WGS can be used to better understand how a genome works. Comparing viral genome sequences from clinical samples can help identify the source of an infection by detecting small variations in the genomes. .
X chromosome inactivation
The inactivation of all but one copy of the X chromosome in female mammals.
Y chromosome view
One of the two sex chromosomes in humans. Men generally have one X chromosome and one Y chromosome whereas women have two X chromosomes. The Y chromosome contains the genes that trigger male development and proper sperm formation.