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A
ACGT
ACGT is an acronym for the four types of bases found in a DNA molecule: adenine (A), cytosine (C), guanine (G), and thymine (T). A DNA molecule consists of two strands wound around each other, with each strand held together by bonds between the bases. Adenine pairs with thymine, and cytosine pairs with guanine. The sequence of bases in a portion of a DNA molecule, called a gene, carries the instructions needed to assemble a protein.
Amino Acids
Amino acids are a set of 20 different molecules used to build proteins. Proteins consist of one or more chains of amino acids called polypeptides. The sequence of the amino acid chain causes the polypeptide to fold into a shape that is biologically active. The amino acid sequences of proteins are encoded in the genes.
Ancestry-informative Markers
Ancestry-informative markers are sets of polymorphisms for a particular DNA sequence that appear in substantially different frequencies between populations from different geographical regions of the world. Ancestry-informative markers can be used to estimate the geographical origins of the ancestors of an individual typically by continent of origin (Africa, Asia, or Europe).
Antibody
An antibody is a protein component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and viruses, and neutralizes them. After exposure to a foreign substance, called an antigen, antibodies continue to circulate in the blood, providing protection against future exposures to that antigen.
Autism
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviours. Symptoms usually appear before the age of three. The exact cause of autism is not known, however, it is likely influenced by genetics. Autism is one of a group of related developmental disorders called autism spectrum disorders (ASDs). Other ASDs include Asperger syndrome and Rett syndrome.
Autosomal Dominant
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases. "Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. "Dominant" means that a single copy of the disease-associated mutation is enough to cause the disease. This is in contrast to a recessive disorder, where two copies of the mutation are needed to cause the disease. Huntington's disease is a common example of an autosomal dominant genetic disorder.
Autosome
An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes. Humans have 22 pairs of autosomes and one pair of sex chromosomes (the X and Y). Autosomes are numbered roughly in relation to their sizes. That is, Chromosome 1 has approximately 2,800 genes, while chromosome 22 has approximately 750 genes.
B
Base Pair
A base pair is two chemical bases bonded to one another forming a "rung of the DNA ladder." The DNA molecule consists of two strands that wind around each other like a twisted ladder. Each strand has a backbone made of alternating sugar (deoxyribose) and phosphate groups. Attached to each sugar is one of four bases--adenine (A), cytosine (C), guanine (G), or thymine (T). The two strands are held together by hydrogen bonds between the bases, with adenine forming a base pair with thymine, and cytosine forming a base pair with guanine.
Birth Defect
A birth defect is an abnormality present at birth. Also called a congenital defect, it can be caused by a genetic mutation, an unfavourable environment during pregnancy, or a combination of both. The effect of a birth defect can be mild, severe, or incompatible with life.
BRCA1/BRCA2
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer. Both genes normally act as tumour suppressors, meaning that they help regulate cell division. When these genes are rendered inactive due to mutation, uncontrolled cell growth results, leading to breast cancer. Women with mutations in either gene have a much higher risk for developing breast cancer than women without mutations in the genes.
C
Cancer
Cancer is a group of diseases characterized by uncontrolled cell growth. Cancer begins when a single cell mutates, resulting in a breakdown of the normal regulatory controls that keep cell division in check. These mutations can be inherited, caused by errors in DNA replication, or result from exposure to harmful chemicals. A cancerous tumour can spread to other parts of the body and, if left untreated, be fatal.
Carrier
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. Carriers are associated with diseases inherited as recessive traits. In order to have the disease, an individual must have inherited mutated alleles from both parents. An individual having one normal allele and one mutated allele does not have the disease. Two carriers may produce children with the disease.
Carrier Screening
Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. A carrier for a genetic disorder has inherited one normal and one abnormal allele for a gene associated with the disorder. A child must inherit two abnormal alleles in order for symptoms to appear. Prospective parents with a family history of a genetic disorder are candidates for carrier screening.
Chromosome
A chromosome is an organized package of DNA found in the nucleus of the cell. Different organisms have different numbers of chromosomes. Humans have 23 pairs of chromosomes--22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, X and Y. Each parent contributes one chromosome to each pair so that offspring get half of their chromosomes from their mother and half from their father.
Complex Disease
A complex disease is caused by the interaction of multiple genes and environmental factors. Complex diseases are also called multifactorial. Examples of complex diseases include cancer and heart disease.
Congenital
Congenital conditions are those present from birth. Birth defects are described as being congenital. They can be caused by a genetic mutation, an unfavourable environment in the uterus, or a combination of both factors.
Copy Number Variation
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next. Following the completion of the Human Genome Project, it became apparent that the genome experiences gains and losses of genetic material. The extent to which copy number variation contributes to human disease is not yet known. It has long been recognized that some cancers are associated with elevated copy numbers of particular genes.
Cystic Fibrosis
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections from mucus build-up, and the loss of salt in sweat. The disease is caused by mutations in a single gene and is inherited as an autosomal recessive trait, meaning that an affected individual inherits two mutated copies of the gene. In the past, cystic fibrosis was almost always fatal in childhood. Today, however, patients commonly live to be 30 years or older.
Cytogenetics
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus. This DNA is condensed during cell division and form chromosomes. The cytogenetic studies the number and morphology of chromosomes. Using chromosome banding techniques (classical cytogenetics) or hybridization fluorescently labelled probes (molecular cytogenetics). The number and morphology of chromosomes in a cell of a particular species are always constant, in most cells of the body (with the exception of reproductive cells and others such as the liver). This is a characteristic of each specie, in humans such as the number of chromosomes is 46.
D
Deletion
Deletion is a type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome.
Diabetes (Diabetes Mellitus)
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin. Insulin is needed by cells to metabolize glucose, the body's main source of chemical energy. Type I diabetes, also called insulin-dependent diabetes mellitus, is usually caused by an autoimmune destruction of insulin-producing cells. Type II diabetes, also called non-insulin-dependent diabetes mellitus, occurs when cells become resistant to the effects of insulin.
DNA (Deoxyribonucleic Acid)
DNA is the chemical name for the molecule that carries genetic instructions in all living things. The DNA molecule consists of two strands that wind around one another to form a shape known as a double helix. Each strand has a backbone made of alternating sugar (deoxyribose) and phosphate groups. Attached to each sugar is one of four bases--adenine (A), cytosine (C), guanine (G), and thymine (T). The two strands are held together by bonds between the bases; adenine bonds with thymine, and cytosine bonds with guanine. The sequence of the bases along the backbones serves as instructions for assembling protein and RNA molecules.
DNA Fingerprinting
DNA fingerprinting is a laboratory technique used to establish a link between biological evidence and a suspect in a criminal investigation. A DNA sample taken from a crime scene is compared with a DNA sample from a suspect. If the two DNA profiles are a match, then the evidence came from that suspect. Conversely, if the two DNA profiles do not match, then the evidence cannot have come from the suspect. DNA fingerprinting is also used to establish paternity.
DNA Replication
DNA replication is the process by which a molecule of DNA is duplicated. When a cell divides, it must first duplicate its genome so that each daughter cell winds up with a complete set of chromosomes.
DNA Sequencing
DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. The DNA base sequence carries the information a cell needs to assemble protein and RNA molecules. DNA sequence information is important to scientists investigating the functions of genes. The technology of DNA sequencing was made faster and less expensive as a part of the Human Genome Project.
Dominant
Dominant refers to the relationship between two versions of a gene. Individuals receive two versions of each gene, known as alleles, from each parent. If the alleles of a gene are different, one allele will be expressed; it is the dominant gene. The effect of the other allele, called recessive, is masked.
Double Helix
Double helix is the description of the structure of a DNA molecule. A DNA molecule consists of two strands that wind around each other like a twisted ladder. Each strand has a backbone made of alternating groups of sugar (deoxyribose) and phosphate groups. Attached to each sugar is one of four bases: adenine (A), cytosine (C), guanine (G), or thymine (T). The two strands are held together by bonds between the bases, adenine forming a base pair with thymine, and cytosine forming a base pair with guanine.
Down Syndrome (Trisomy 21)
Down syndrome is a genetic disease resulting from a chromosomal abnormality. An individual with Down syndrome inherits all or part of an extra copy of Chromosome 21. Symptoms associated with the syndrome include mental retardation, distinctive facial characteristics, and increased risk for heart defects and digestive problems, which can range from mild to severe. The risk of having a child with Down syndrome rises with the mother's age at the time of conception.
Duplication
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome. Gene and chromosome duplications occur in all organisms, though they are especially prominent among plants. Gene duplication is an important mechanism by which evolution occurs.
E
Enzyme
An enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over. A cell contains thousands of different types of enzyme molecules, each specific to a particular chemical reaction.
Epigenetics
Epigenetics is an emerging field of science that studies heritable changes caused by the activation and deactivation of genes without any change in the underlying DNA sequence of the organism. The word epigenetics is of Greek origin and literally means over and above (epi) the genome.
Epigenome
The term epigenome is derived from the Greek word epi which literally means "above" the genome. The epigenome consists of chemical compounds that modify, or mark, the genome in a way that tells it what to do, where to do it, and when to do it. Different cells have different epigenetic marks. These epigenetic marks, which are not part of the DNA itself, can be passed on from cell to cell as cells divide, and from one generation to the next.
Evolution
Evolution is the process by which organisms change over time. Mutations produce genetic variation in populations, and the environment interacts with this variation to select those individuals best adapted to their surroundings. The best-adapted individuals leave behind more offspring than less well-adapted individuals. Given enough time, one species may evolve into many others.
F
Family History
A family history is a record of medical information about an individual and their biological family. Human genetic data is becoming more prevalent and easy to obtain. Increasingly, this data is being used to identify individuals who are at increased risk for developing genetic disorders that run in families.
First Degree Relative
A first degree relative is a family member who shares about 50 percent of their genes with a particular individual in a family. First degree relatives include parents, offspring, and siblings.
Founder Effect
The founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony. The new population may be very different from the original population, both in terms of its genotypes and phenotypes. In some cases, the founder effect plays a role in the emergence of new species.
Fragile X Syndrome
Fragile X syndrome is a hereditary disorder affecting mostly males. Symptoms include mental retardation, distinctive facial features, and poor muscle tone. The syndrome is caused by mutations in a gene on the X chromosome. Since males have a single copy of the X chromosome, they show symptoms if gene on their X chromosome is mutated. Females have a second, usually normal, copy of the gene on their other X chromosome. Consequently, they are less likely to show symptoms of the syndrome.
Fraternal Twins
Fraternal twins are also dizygotic twins. They result from the fertilization of two separate eggs during the same pregnancy. Fraternal twins may be of the same or different sexes. They share half of their genes just like any other siblings. In contrast, twins that result from the fertilization of a single egg that then splits in two are called monozygotic, or identical, twins. Identical twins share all of their genes and are always the same sex.
G
Gene
The gene is the basic physical unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify traits. Genes are arranged, one after another, on structures called chromosomes. A chromosome contains a single, long DNA molecule, only a portion of which corresponds to a single gene. Humans have approximately 23,000 genes arranged on their chromosomes.
Gene Amplification
Gene amplification is an increase in the number of copies of a gene sequence. Cancer cells sometimes produce multiple copies of genes in response to signals from other cells or their environment. The term also can refer to polymerase chain reaction (PCR), a laboratory technique that is used by scientists to amplify gene sequences in a test tube.
Gene Environment Interaction
Gene environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment. Some traits are strongly influenced by genes, while other traits are strongly influenced by the environment. Most traits, however, are influenced by one or more genes interacting in complex ways with the environment.
Gene Expression
Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule. The cell reads the sequence of the gene in groups of three bases. Each group of three bases (codon) corresponds to one of 20 different amino acids used to build the protein.
Gene Mapping
Gene mapping is the process of establishing the locations of genes on the chromosomes. Early gene maps used linkage analysis. The closer two genes are to each other on the chromosome, the more likely it is that they will be inherited together. By following inheritance patterns, the relative positions of genes can be determined. More recently, scientists have used recombinant DNA (rDNA) techniques to establish the actual physical locations of genes on the chromosomes.
Gene Pool
A gene pool is the total genetic diversity found within a population or a species. A large gene pool has extensive genetic diversity and is better able to withstand the challenges posed by environmental stresses. Inbreeding contributes to the creation of a small gene pool and makes populations or species more likely to go extinct when faced with some type of stress.
Gene Regulation
Gene regulation is the process of turning genes on and off. During early development, cells begin to take on specific functions. Gene regulation ensures that the appropriate genes are expressed at the proper times. Gene regulation can also help an organism respond to its environment. Gene regulation is accomplished by a variety of mechanisms including chemically modifying genes and using regulatory proteins to turn genes on or off.
Gene Therapy
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material. Most often, gene therapy works by introducing a healthy copy of a defective gene into the patient's cells.
Genetic Code
The instructions in a gene that tell the cell how to make a specific protein. A, C, G, and T are the "letters" of the DNA code; they stand for the chemicals adenine (A), cytosine (C), guanine (G), and thymine (T), respectively, that make up the nucleotide bases of DNA. Each gene's code combines the four chemicals in various ways to spell out three-letter "words" that specify which amino acid is needed at every step in making a protein.
Genetic Counselling
Genetic counselling is the professional interaction between a healthcare provider with specialised knowledge of genetics and an individual or family. The genetic counsellor determines whether a condition in the family may be genetic and estimates the chances that another relative may be affected. Genetic counsellors also offer and interpret genetic tests that may help to estimate risk of disease. The genetic counsellor conveys information in an effort to address concerns of the client and provides psychological counselling to help families adapt to their condition or risk.
Genetic Discrimination
Genetic discrimination is prejudice directed against people who have or may have a genetic disease. Genetic discrimination can involve being denied employment or health insurance. In a healthcare context, it can refer to people being treated based on their genetic status rather than by some more relevant criterion.
Genetic Engineering
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism. Traditionally, humans have manipulated genomes indirectly by controlling breeding and selecting offspring with desired traits. Genetic engineering involves the direct manipulation of one or more genes. Most often, a gene from another species is added to an organism's genome to give it a desired phenotype.
Genetic Epidemiology
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations. Areas of study include the causes of inherited disease and its distribution and control.
Genetic Imprinting
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene. In some cases imprinted genes are expressed when the are inherited from the mother. in other cases they are expressed when inherited from the father. Unlike genomic mutations that can affect the ability of inherited genes to be expressed, genomic imprinting does not affect the DNA sequence itself. Genomic imprinting affects gene expression by chemically modifying DNA and/or altering the chromatin structure. Often, genomic imprinting results in a gene being expressed only in the chromosome inherited from one or the other parent. While this is a normal process, when combined with genomic mutations, disease can result. For example, Prader-Willi syndrome and Angelman syndrome are two distinct diseases caused by a deletion in the same part of chromosome 15. When this deletion occurs on the chromosome 15 that came from the father, the child will have Prader-Willi syndrome. However, when the deletion occurs on the chromosome 15 that came from the mother, the child will develop Angelman syndrome. This occurs because genes located in this region undergo genomic imprinting.
Genetic Map
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features. The map is based on the idea of linkage, which means that the closer two genes are to each other on the chromosome, the greater the probability that they will be inherited together. By following inheritance patterns, the relative locations of genes along the chromosome are established.
Genetic Marker
A genetic marker is a DNA sequence with a known physical location on a chromosome. Genetic markers can help link an inherited disease with the responsible gene. DNA segments close to each other on a chromosome tend to be inherited together. Genetic markers are used to track the inheritance of a nearby gene that has not yet been identified, but whose approximate location is known. The genetic marker itself may be a part of a gene or may have no known function.
Genetic Screening
Genetic screening is the process of testing a population for a genetic disease in order to identify a subgroup of people that either have the disease or the potential to pass it on to their offspring.
Genetic Testing
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. The results of a genetic test can be used to confirm or rule out a suspected genetic disease or to determine the likelihood of a person passing on a mutation to their offspring. Genetic testing may be performed prenatally or after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counsellor.
Genetic Variation
Genetic variation refers to diversity in gene frequencies. Genetic variation can refer to differences between individuals or to differences between populations. Mutation is the ultimate source of genetic variation, but mechanisms such as sexual reproduction and genetic drift contribute to it as well.
Genome
The genome is the entire set of genetic instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome found in the cells' mitochondria. These chromosomes, taken together, contain approximately 3.1 billion bases of DNA sequence.
Genomics
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
Genotype
A genotype is an individual's collection of genes. The term also can refer to the two alleles inherited for a particular gene. The genotype is expressed when the information encoded in the genes' DNA is used to make protein and RNA molecules. The expression of the genotype contributes to the individual's observable traits, called the phenotype.
Germ Line
A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing organisms to pass on genes from generation to generation. Egg and sperm cells are called germ cells, in contrast to the other cells of the body that are called somatic cells.
H
Haemophilia
Haemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting. The responsible gene is located on the X chromosome, and since males inherit only one copy of the X chromosome, if that chromosome carries the mutated gene then they will have the disease. Females have a second, usually normal, copy of the gene on their other X chromosome, so they capable of passing on the disease without experiencing its symptoms.
Haploid
Haploid is the quality of a cell or organism having a single set of chromosomes. Organisms that reproduce asexually are haploid. Sexually reproducing organisms are diploid (having two sets of chromosomes, one from each parent). In humans, only their egg and sperm cells are haploid.
Gene Environment Interaction
Heterozygous refers to having inherited different forms of a particular gene from each parent. A heterozygous genotype stands in contrast to a homozygous genotype, where an individual inherits identical forms of a particular gene from each parent.
Holoprosencephaly
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain. The disorder produces a single-lobed brain structure and severe skull and facial abnormalities. Often the deformities cause babies to die before birth. In mild cases, babies are born with near-normal brain development and facial abnormalities involving cleft lip or cleft palate.
Homozygous
Homozygous is a genetic condition where an individual inherits the same alleles for a particular gene from both parents.
Human Genome Project
The Human Genome Project was an international project that mapped and sequenced the entire human genome. Completed in April 2003, data from the project are freely available to researchers and others interested in genetics and human health.
Huntington's Disease
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. Symptoms usually begin during middle age. The disease is inherited as an autosomal dominant trait, meaning that a single mutated copy of the responsible gene is sufficient to cause the disease.
I
Identical Twins
Identical twins are also known as monozygotic twins. They result from the fertilization of a single egg that splits in two. Identical twins share all of their genes and are always of the same sex. In contrast, fraternal, or dizygotic, twins result from the fertilization of two separate eggs during the same pregnancy. They share half of their genes, just like any other siblings. Fraternal twins can be of the same or different sexes.
Inherited
An inherited trait is one that is genetically determined. Inherited traits are passed from parent to offspring according to the rules of Mendelian genetics. Most traits are not strictly determined by genes, but rather are influenced by both genes and environment.
Insertion
Insertion is a type of mutation involving the addition of genetic material. An insertion mutation can be small, involving a single extra DNA base pair, or large, involving a piece of a chromosome.
Intron
An intron is a portion of a gene that does not code for amino acids. In the cells of plants and animals, most gene sequences are broken up by one or more introns. The parts of the gene sequence that are expressed in the protein are called exons, because they are expressed, while the parts of the gene sequence that are not expressed in the protein are called introns, because they come in between the exons.
K
Karyotype
A karyotype is an individual's collection of chromosomes. The term also refers to a laboratory technique that produces an image of an individual's chromosomes. The karyotype is used to look for abnormal numbers or structures of chromosomes.
L
Linkage
Linkage is the close association of genes or other DNA sequences on the same chromosome. The closer two genes are to each other on the chromosome, the greater the probability that they will be inherited together.
Lymphocyte
A lymphocyte is a type of white blood cell that is part of the immune system. There are two main types of lymphocytes: B cells and T cells. The B cells produce antibodies that are used to attack invading bacteria, viruses, and toxins. The T cells destroy the body's own cells that have themselves been taken over by viruses or become cancerous.
M
Mendelian Inheritance
Mendelian inheritance refers to patterns of inheritance that are characteristic of organisms that reproduce sexually. The Austrian monk Gregor Mendel performed thousands of crosses with garden peas at his monastery during the middle of the 19th century. Mendel explained his results by describing two laws of inheritance that introduced the idea of dominant and recessive genes.
Messenger RNA (mRNA)
Messenger RNA (mRNA) is a single-stranded RNA molecule that is complementary to one of the DNA strands of a gene. The mRNA is an RNA version of the gene that leaves the cell nucleus and moves to the cytoplasm where proteins are made. During protein synthesis, an organelle called a ribosome moves along the mRNA, reads its base sequence, and uses the genetic code to translate each three-base triplet, or codon, into its corresponding amino acid.
Microsatellite
Microsatellite sequences are repetitive DNA sequences usually several base pairs in length. Microsatellite sequences are composed of non-coding DNA and are not parts of genes. They are used as genetic markers to follow the inheritance of genes in families.
Missense Mutation
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. This amino acid substitution may have no effect, or it may render the protein nonfunctional.
Mitochondria
Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions. Chemical energy produced by the mitochondria is stored in a small molecule called adenosine triphosphate (ATP). Mitochondria contain their own small chromosomes. Generally, mitochondria, and therefore mitochondrial DNA, are inherited only from the mother.
Mitochondrial DNA
Mitochondrial DNA is the small circular chromosome found inside mitochondria. The mitochondria are organelles found in cells that are the sites of energy production. The mitochondria, and thus mitochondrial DNA, are passed from mother to offspring.
Monosomy
Monosomy is the state of having a single copy of a chromosome pair instead of the usual two copies found in diploid cells. Monosomy can be partial if a portion of the second chromosome copy is present. Monosomy, or partial monosomy, is the cause of some human diseases such as Turner syndrome and Cri du Chat syndrome.
Mutation
A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses. Germ line mutations occur in the eggs and sperm and can be passed on to offspring, while somatic mutations occur in body cells and are not passed on.
N
Newborn Screening
Newborn screening is testing performed on newborn babies to detect a wide variety of disorders. Typically, testing is performed on a blood sample obtained from a heel prick when the baby is two or three days old. In the United States, newborn screening is mandatory for several different genetic disorders, though the exact set of required tests differs from state to state.
Non-Coding DNA
Non-coding DNA sequences do not code for amino acids. Most non-coding DNA lies between genes on the chromosome and has no known function. Other non-coding DNA, called introns, is found within genes. Some non-coding DNA plays a role in the regulation of gene expression.
Non-Directiveness
Non-directiveness refers to the nature of the genetic counselling process. According to the principle of non-directiveness, the genetic counsellor has the responsibility to provide the client with accurate information about a test or outcome but should remain neutral and not try to influence the decisions made by the client.
Nonsense Mutation
A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid. The presence of this premature stop codon results in the production of a shortened, and likely nonfunctional, protein.
Nucleotide
A nucleotide is the basic building block of nucleic acids. RNA and DNA are polymers made of long chains of nucleotides. A nucleotide consists of a sugar molecule (either ribose in RNA or deoxyribose in DNA) attached to a phosphate group and a nitrogen-containing base. The bases used in DNA are adenine (A), cytosine (C), guanine (G), and thymine (T). In RNA, the base uracil (U) takes the place of thymine.
Human Genome Project
The Human Genome Project was an international project that mapped and sequenced the entire human genome. Completed in April 2003, data from the project are freely available to researchers and others interested in genetics and human health.
O
Oncogene
An oncogene is a mutated gene that contributes to the development of a cancer. In their normal, unmutated state, oncogenes are called proto-oncogenes, and they play roles in the regulation of cell division. Some oncogenes work like putting your foot down on the accelerator of a car, pushing a cell to divide. Other oncogenes work like removing your foot from the brake while parked on a hill, also causing the cell to divide.
Open Reading Frame
An open reading frame is a portion of a DNA molecule that, when translated into amino acids, contains no stop codons. The genetic code reads DNA sequences in groups of three base pairs, which means that a double-stranded DNA molecule can read in any of six possible reading frames--three in the forward direction and three in the reverse. A long open reading frame is likely part of a gene.
Organ
In biology, an organ (from the Latin "organum" meaning an instrument or tool) is a collection of tissues that structurally form a functional unit specialized to perform a particular function. Your heart, kidneys, and lungs are examples of organs.
P
Pedigree
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations. The pedigree shows the relationships between family members and indicates which individuals express or silently carry the trait in question.
Personalised Medicine
Personalised medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease. Knowledge of a patient's genetic profile can help doctors select the proper medication or therapy and administer it using the proper dose or regimen. Personalised medicine is being advanced through data from the Human Genome Project.
Pharmacogenomics
Pharmacogenomics is 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.
Phenotype
A phenotype is an individual's observable traits, such as height, eye colour, and blood type. The genetic contribution to the phenotype is called the genotype. Some traits are largely determined by the genotype, while other traits are largely determined by environmental factors.
Point Mutation
A point mutation is when a single base pair is altered. Point mutations can have one of three effects. First, the base substitution can be a silent mutation where the altered codon corresponds to the same amino acid. Second, the base substitution can be a missense mutation where the altered codon corresponds to a different amino acid. Or third, the base substitution can be a nonsense mutation where the altered codon corresponds to a stop signal.
Polygenic Trait
A polygenic trait is one whose phenotype is influenced by more than one gene. Traits that display a continuous distribution, such as height or skin colour, are polygenic. The inheritance of polygenic traits does not show the phenotypic ratios characteristic of Mendelian inheritance, though each of the genes contributing to the trait is inherited as described by Gregor Mendel. Many polygenic traits are also influenced by the environment and are called multifactorial.
Polymerase Chain Reaction (PCR)
Polymerase chain reaction (PCR) is a laboratory technique used to amplify DNA sequences. The method involves using short DNA sequences called primers to select the portion of the genome to be amplified. The temperature of the sample is repeatedly raised and lowered to help a DNA replication enzyme copy the target DNA sequence. The technique can produce a billion copies of the target sequence in just a few hours.
Polymorphism
Polymorphism involves one of two or more variants of a particular DNA sequence. The most common type of polymorphism involves variation at a single base pair. Polymorphisms can also be much larger in size and involve long stretches of DNA. Called a single nucleotide polymorphism, or SNP (pronounced "snip"), scientists are studying how SNPs in the human genome correlate with disease, drug response, and other phenotypes.
Population Genomics
Population genomics is the application of genomic technologies to understand populations of organisms. In humans, population genomics typically refers to applying technology in the quest to understand how genes contribute to our health and well-being.
Proband
A proband is an individual being studied or reported on. A proband is usually the first affected individual in a family who brings a genetic disorder to the attention of the medical community.
Proteins
Proteins are an important class of molecules found in all living cells. A protein is composed of one or more long chains of amino acids, the sequence of which corresponds to the DNA sequence of the gene that encodes it. Proteins play a variety of roles in the cell, including structural (cytoskeleton), mechanical (muscle), biochemical (enzymes), and cell signalling (hormones). Proteins are also an essential part of diet.
Pseudogene
A pseudogene is a DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution. A pseudogene shares an evolutionary history with a functional gene and can provide insight into their shared ancestry.
R
Recessive
Recessive is a quality found in the relationship between two versions of a gene. Individuals receive one version of a gene, called an allele, from each parent. If the alleles are different, the dominant allele will be expressed, while the effect of the other allele, called recessive, is masked. In the case of a recessive genetic disorder, an individual must inherit two copies of the mutated allele in order for the disease to be present.
Recombinant DNA (rDNA)
Recombinant DNA (rDNA) is a technology that uses enzymes to cut and paste together DNA sequences of interest. The recombined DNA sequences can be placed into vehicles called vectors that ferry the DNA into a suitable host cell where it can be copied or expressed.
Risk
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder. Both genes and environment influence risk. An individual's risk may be higher because they inherit genes that cause or increase susceptibility to a disorder. Other individuals may be at higher risk because they live or work in an environment that promotes the development of the disorder.
Ribonucleic Acid (RNA)
Ribonucleic acid (RNA) is a molecule similar to DNA. Unlike DNA, RNA is single-stranded. An RNA strand has a backbone made of alternating sugar (ribose) and phosphate groups. Attached to each sugar is one of four bases--adenine (A), uracil (U), cytosine (C), or guanine (G). Different types of RNA exist in the cell: messenger RNA (mRNA), ribosomal RNA (rRNA), and transfer RNA (tRNA). More recently, some small RNAs have been found to be involved in regulating gene expression.
S
Sex Chromosome
A sex chromosome is a type of chromosome that participates in sex determination. Humans and most other mammals have two sex chromosomes, the X and the Y. Females have two X chromosomes in their cells, while males have both X and a Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or Y chromosome. This arrangement means that it is the male that determines the sex of the offspring when fertilization occurs.
Sex Linked
Sex linked is a trait in which a gene is located on a sex chromosome. In humans, the term generally refers to traits that are influenced by genes on the X chromosome. This is because the X chromosome is large and contains many more genes than the smaller Y chromosome. In a sex-linked disease, it is usually males who are affected because they have a single copy of X chromosome that carries the mutation. In females, the effect of the mutation may be masked by the second healthy copy of the X chromosome.
Single Nucleotide Polymorphisms (SNPs)
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. Scientists are studying how single nucleotide polymorphisms, or SNPs (pronounced "snips"), in the human genome correlate with disease, drug response, and other phenotypes.
Somatic Cell
A somatic cell is any cell of the body except sperm and egg cells. Somatic cells are diploid, meaning that they contain two sets of chromosomes, one inherited from each parent. Mutations in somatic cells can affect the individual, but they are not passed on to offspring.
Stem Cell
A stem cell is a cell with the potential to form many of the different cell types found in the body. When stem cells divide, they can form more stem cells or other cells that perform specialised functions. Embryonic stem cells have the potential to form a complete individual, whereas adult stem cells can only form certain types of specialised cells. Stem cells continue to divide as long as the individual remains alive.
Stop Codon
A stop codon is a trinucleotide sequence within a messenger RNA (mRNA) molecule that signals a halt to protein synthesis. The genetic code describes the relationship between the sequence of DNA bases (A, C, G, and T) in a gene and the corresponding protein sequence that it encodes. The cell reads the sequence of the gene in groups of three bases. Of the 64 possible combinations of three bases, 61 specify an amino acid, while the remaining three combinations are stop codons.
Substitution
Substitution is a type of mutation where one base pair is replaced by a different base pair. The term also refers to the replacement of one amino acid in a protein with a different amino acid.
Susceptibility
Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease. Susceptibility is influenced by a combination of genetic and environmental factors.
Syndrome
Syndrome is a collection of recognisable traits or abnormalities that tend to occur together and are associated with a specific disease.
T
Trait
A trait is a specific characteristic of an organism. Traits can be determined by genes or the environment, or more commonly by interactions between them. The genetic contribution to a trait is called the genotype. The outward expression of the genotype is called the phenotype.
Transcription
Transcription is the process of making an RNA copy of a gene sequence. This copy, called a messenger RNA (mRNA) molecule, leaves the cell nucleus and enters the cytoplasm, where it directs the synthesis of the protein, which it encodes.
Transfer RNA (tRNA)
Transfer RNA (tRNA) is a small RNA molecule that participates in protein synthesis. Each tRNA molecule has two important areas: a trinucleotide region called the anticodon and a region for attaching a specific amino acid. During translation, each time an amino acid is added to the growing chain, a tRNA molecule forms base pairs with its complementary sequence on the messenger RNA (mRNA) molecule, ensuring that the appropriate amino acid is inserted into the protein.
Translation
Translation is the process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis. The genetic code describes the relationship between the sequence of base pairs in a gene and the corresponding amino acid sequence that it encodes. In the cell cytoplasm, the ribosome reads the sequence of the mRNA in groups of three bases to assemble the protein.
Translocation
Translocation is a type of chromosomal abnormality in which a chromosome breaks and a portion of it reattaches to a different chromosome. Chromosomal translocations can be detected by analyzing karyotypes of the affected cells.
Tumour Suppressor Gene
A tumour suppressor gene directs the production of a protein that is part of the system that regulates cell division. The tumour suppressor protein plays a role in keeping cell division in check. When mutated, a tumour suppressor gene is unable to do its job, and as a result uncontrolled cell growth may occur. This may contribute to the development of a cancer.
V
Virus
A virus is an infectious agent that occupies a place near the boundary between the living and the nonliving. It is a particle much smaller than a bacterial cell, consisting of a small genome of either DNA or RNA surrounded by a protein coat. Viruses enter host cells and hijack the enzymes and materials of the host cells to make more copies of themselves. Viruses cause a wide variety of diseases in plants and animals, including AIDS, measles, smallpox, and polio.
X
X Chromosome
The X chromosome is one of two sex chromosomes. Humans and most mammals have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or a Y chromosome. This arrangement means that during fertilization, it is the male that determines the sex of the offspring.
X-linked
X-linked is a trait where a gene is located on the X chromosome. Humans and other mammals have two sex chromosomes, the X and the Y. In an X-linked or sex linked disease, it is usually males that are affected because they have a single copy of the X chromosome that carries the mutation. In females, the effect of the mutation may be masked by the second healthy copy of the X chromosome.
Y
Y Chromosome
The Y chromosome is one of two sex chromosomes. Humans and other mammals have two sex chromosomes, the X and the Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells contain an X chromosome, while sperm cells contain an X or a Y chromosome. This arrangement means that during fertilization, it is the male that determines the sex of the offspring.
Glossary with courtesy: National Human Genome Research Institute.
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