Glossary of Terms Relevant to Behavioural

Genetics
Adequacy (in the context of science): Refers to the assessment of an
explanation or hypothesis. An adequate explanation is stated as clearly as
possible, at the appropriate level of simplicity; accounts for most (ideally,
all) of the observed regularity; and is consistent with existing scientific
knowledge.
Adoption studies: Studies that use the separation of biological and social
parentage brought about by adoption to assess the relative importance of
genetics and environmental influences. Typically, comparisons are made
between adoptees’ resemblance to their biological parents, who did not
raise them to their adoptive parents who did. Other studies compare
genetically related siblings and genetically unrelated (adoptive) siblings
raised in the same family.
Affected: The condition of having a particular trait, usually used in the
context of a disadvantageous trait, as for a disease symptom.
Affective symptoms: When someone has mood or emotional responses that
are inappropriate to the behaviour and/or stimulus around them.
Aggression: Behaviour manifested by destructive and attacking actions, by
covert attitudes of hostility and obstructionism, or by a healthy self-
expressive drive to mastery. Aggression may arise from innate drives
and/or in response to frustration.
Allele: One of two or more alternative forms of a gene; a single allele for each
gene is inherited separately from each parent.
Amino Acid: Molecules combined to form proteins. The sequence of amino
acids in a protein, and hence protein function, are determined by the
genetic code.
Animal selection studies: A tool for detecting genetic influences on
behavior. A quantitative trait is measured in animals of mixed genetic
background, which produces a continuous distribution of phenotypes.
Animals exhibiting high and low extremes for the trait are selected as
parents for the next generation. If the trait has a genetic basis, then there
will be divergence over time in the value of the trait in offspring selected
for high and low values.
Antisocial behaviour: Acting in a manner that is hostile or harmful to
organized society, especially being or marked by behaviour deviating
sharply from the social norm.
Association studies: An approach used to test whether a gene influences a
trait. Comparisons are made between observations of alleles for a
candidate gene in populations of individuals with or without the trait. If a

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 particular allele is observed more often in the group with the trait than in
the group without the trait, then that allele may influence the trait.
Attention deficit hyperactivity disorder (ADHD): A behavioral disorder
that appears to be influenced by genetics. It is characterized by problems
with maintaining attention and by impulsivity and hyperactivity.
Attention Deficit Hyperactivity Disorder/Attention Deficit Disorder
(ADHD/ADD): A neurobehavioral disorder characterized by an attention
span or ability to concentrate that is less than expected for a person's
age. Often there is age-inappropriate hyperactivity, impulsive behaviour
or lack of inhibition. There are several types of ADHD: a predominantly
inattentive subtype, a predominantly hyperactive-impulsive subtype, and
a combined subtype. The condition can be cognitive alone or both
cognitive and behavioural.
Autosome: A chromosome not involved in sex determination. The diploid
human genome consists of 46 chromosomes: 22 pairs of autosomes and 1
pair of sex chromosomes (the X and Y chromosomes).
Behaviour: The response of an individual, group, or species to its
environment or within the context of its environment. The term can refer
generally to the way in which someone behaves or to an instance of such
behaviour.
Behavioural genetics: The study of the relationship between genetics and
environment in determining individual differences of behaviour.
Bipolar disorder or manic depression: A mood disorder characterized by
mood swings from mania (exaggerated feeling of well-being) to
depression, with a tendency to recur and subside spontaneously. Either
the manic or the depressive episodes can predominate and produce mood
swings, or the patterns of mood swings may be cyclic. The manic phase is
characterized by elation, hyperactivity, over-involvement in activities,
inflated self-esteem, a tendency to be easily distracted, and little need for
sleep. The manic episodes may last from several days to months. In the
depressive phase there is sluggishness (inertia), loss of self-esteem,
withdrawal, sadness, and a risk of suicide.
Brain plasticity: A characteristic of neoteny, which describes variations in
brain development due to chance that can contribute to differences in
behavior.
Candidate gene: A gene that is postulated to influence a trait based on one
or more lines of evidence such as linkage, association and mutational
analysis, or biochemical considerations.
Chiasma (plural is chiasmata): The point of crossing over during prophase I
of meiosis in which there is an actual exchange of genetic material
between the paired maternal and paternal copies of chromosomes.

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Chi-square: A statistical test that evaluates how well a set of observations fit
a predicted outcome. The chi-square is often referred to as a “goodness-
of-fit” test.
Chromosome: The structure in an organism that contains an individual’s
genes. Humans typically have 46 chromosomes in every cell of their
body, inheriting half from each parent. If a chromosome is missing,
duplicated, or damaged, an individual can develop health problems.
Coding region: A stretch of DNA sequence (in a gene) that encodes protein.
Codominance: The condition in which a pair of alleles for a given locus
contributes equally to the phenotype of the heterozygote who bears them.
Cognitive: Relating to or involving the act or process of knowing, which
includes awareness, judgement, perception, reasoning, and conceiving.
Complexity (in genetic and environmental sense): The quality of being
hard to separate, analyze, or solve, or being composed of many parts. It is
believed that a myriad of both genetic and environmental aspects often
contribute to behaviour and therefore lead to such a complexity in
determining the ‘cause’. See also 'Nature v. nurture'.
Concordance: The presence of a particular trait in two or more family
members, such as twins.
Congenital: Existing from birth (note that this term does not distinguish
whether the condition is inherited, environmental, or both).
Continuous variation: A type of phenotypic variation that displays a wide
distribution of phenotypes in a population due to the interaction of many
genes (polygenic causation) or to genetic and environmental factors
(multifactorial causation).
Correlation: A statistic that describes the magnitude and direction of
association between two measurements or observations. A correlation of
1.0 means that knowledge of one observation reliably predicts the second
observation; a correlation of -1.0 means that the two observations are
associated in the opposite direction; and a correlation of 0 means that the
two observations are unrelated.
Credible (in the context of scientific methods): The condition of being reliable
and based on acceptable methods, as in reference to evidence that meets
scientific criteria for accuracy and reproducibility.
Criminality: The quality or state of engaging in illegal activity.
Cytogenetics: A subdiscipline of genetics that combines the study of the cell
with the study of genetics, often focusing on the structure, function, and
behavior of chromosomes.
Deletion (in the context of molecular genetics): The absence of one or more
nucleotides normally found in a gene, resulting in a mutation.

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Deoxyribonucleic acid (DNA): The double-stranded molecule encoding the
total genetic information of most organisms.
Determinism: A concept from philosophy that maintains that all human
thought and action is completely determined by physical and biological
forces. A consequence of determinism is that freedom and autonomy
cease to exist.
Developmental autonomy (in the context of ethics): Having sufficient
mental and emotional maturity to be capable of informed consent.
Diploid: Having two copies of each chromosome; a diploid cell has a
chromosome number of 2n. In humans, the diploid number is 46.
Discrete variation: Refers to a type of phenotypic variation that displays a
small number of distinct phenotypes typically due to the actions of a
single or a few genes (for example, Huntington disease; blood groups).
Dizygotic (DZ) twins: Twins formed from separate fertilized eggs. Fraternal
twins share 50 percent of their genes, on average, as with any other
sibling.
Dominant trait: Characteristic associated with genes that are reflected in
the phenotype both in the homozygous and the heterozygous state (e.g.,
only one copy of the dominant allele is required to give the characteristic).
Dualism: A view of human nature derived from René Descartes’ philosophy
that maintains that mind and body are separate.
Dyslexia: A specific reading disability that is influenced by genetics.
ELSI: Ethical, Legal, and Social Implications, a division of the Human Genome
Project.
Environment: The sum of circumstances, objects, and conditions that
surround an individual. The aggregate of social, cultural and physical
environmental conditions that influence the life of an individual or
community. For the gene, the environment encompasses all conditions
external to the gene, including the influence of other genes.
Ethics: The discipline dealing with what is good and bad, and with moral duty
and obligation. The term can also refer to a set of moral principles or
values, or a theory or system of moral values. Also, the principles of
conduct governing an individual or a group.
Ethnicity: Common qualities or affiliation with large groups of people classed
according to common racial, national, tribal, religious, linguistic, or
cultural origin or background.
Eugenics: meaning “well born”; an application of human genetics initiated by
Francis Galton (1822–1911), Charles Darwin’s half-cousin. Eugenics sought
to improve the human species by encouraging those with desirable

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 characteristics to reproduce while at the same time discouraging those
deemed “inferior” from having children.
Eukaryote: An organism in which cells have a membrane-bound nucleus.
Eukaryotes have other subcellular organelles, such as mitochondria or, in
the case of plant cells, chloroplasts. Humans are eukaryotes.
Gamete: A sexual reproductive cell. Gametes are haploid, having a single (n)
complement of genetic material. In humans, the gametes are ova and
sperm.
Gel electrophoresis: A laboratory separation technique that uses electricity
to move molecules though a molecular sieve made out of a gel-like
substance, usually either agarose (natural) or polyacrylamide (synthetic).
In biology, the technique is used to sort proteins or nucleic acid molecules
by their size.
Gene pool: The complete set of genetic information in a population; the gene
pool includes all alleles present in the population.
Gene therapy: An experimental approach involving the intentional alteration
of genetic makeup to affect a phenotypic change. For example, when a
'normal' gene is inserted into cells to replace a 'malfunctioning' gene that
is causing some disease or condition.
Gene: The hereditary unit of life in a chromosome. Contains a unique
segment of DNA that provides the complete instructions for making a
protein or several related proteins that each cell type (e.g., skin, liver)
needs to create a unique individual. (Not all genes encode protein. For
example, in the genes for ribosomal RNA, the transcript is the functional
product).
Genetic code: Instructions in a gene that tell the cell how to make specific
proteins. Each gene's code combines four nucleotides in various ways to
spell "words" that specify which amino acid is needed when making a
protein.
Genetic determinism: The view that the development of an organism is
determined solely by genetic factors. This view is not supported by
scientists.
Genetic screening: The identification or mapping of a person's genetic
structure. During the process, all or part of an individual's DNA is
evaluated to discover whether or not certain genes are present. This
mapping can be performed at any stage of life, from 'pre-implantation'
embryo to adult.
Genetics: The study of the patterns of inheritance of specific traits and their
variation among organisms.
Genome: The human genome is a single haploid set of nuclear
chromosomes.

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Genotype: The genetic makeup of a cell or organism. Genotype can be
contrasted with the phenotype (the detectable attributes). Genotype can
also refer to the particular allelic makeup for a given gene.
Germ line: Cells capable of contributing genetic material to subsequent
generations (e.g., eggs and sperm).
Haploid: Cell in which each type of chromosome, for instance a human
gamete (e.g., sperm or egg), is present only once, i.e., 23 chromosomes
are present (see diploid).
HD: The abbreviation for the human genetic disorder Huntington disease. HD
is a disorder of the nervous system, usually with adult onset of symptoms.
It often is used as an example of a single-gene disorder. The disorder is
fatal.
Heredity: The sum of the qualities and potentialities genetically derived from
one's ancestors, or the transmission of such qualities.
Heritability: A term that describes the proportion of phenotypic variation
among individuals in a specific population that can be attributed to
genetic effects. Heritability is a characteristic of a population, not of an
individual, and is an estimate of the relative importance of genetic
influences on a trait (as opposed to environmental influences).
Heritable: Capable of being transmitted to offspring.
Heterozygous: Having two alleles of a gene at a specific locus which are
different.
HGP: The Human Genome Project; a large, collaborative, scientific research
effort funded in the United States by the U.S. Department of Energy (DOE)
and the National Institutes of Health (NIH).
Homolog: One of a pair of chromosomes that contains equivalent genetic
information. In germ-line cells, homologs pair with one another during
meiosis. One homolog is derived from the mother and one from the father.
Homozygous: The condition of having identical alleles for a particular gene
at a given locus in a chromosome pair.
Hypothesis: A testable idea or explanation proposed in response to previous
knowledge and specific observations.
Identity: The set of behavioural or personal characteristics by which an
individual is recognizable as a distinct person (or as a member of a
particular group).
Impulsive behaviour: An act performed without delay, reflection, voluntary
direction or obvious control in response to a stimulus.
Informatics: The study of information processing. In the field of biology,
informatics generally refers to the study of genetic sequence data.

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Inheritable: A quality that is capable of being transmitted to the next and/or
subsequent generations.
Injustice: Wrongful act or omission that denies an individual or group the
benefits to which they have a rightful claim, or failure to distribute
burdens in a fair manner.
Insanity: A legal term indicating that a person committing a criminal act is
unaware that s/he was acting illegally due to a mental disorder.
Intelligence: The ability to learn or understand, to deal with new or trying
situations, or to use reason skilfully. Abilities associated with intelligence,
such as application of knowledge to manipulate one's environment or
thinking abstractly, are often measured by 'objective' criteria (such as
tests).
Interactionism: A view of human nature derived from Immanuel Kant’s
philosophy that maintains that there is interaction between the physical
(brain, nervous system, and body) and the mind.
Justice: Fair, equitable, and appropriate treatment in light of what is due or
owed to persons. The maintenance or administration of what is just,
especially by the impartial adjustment of conflicting claims or the
assignment of merited rewards or punishments. The quality of being just,
impartial, or fair. The principle or ideal of just dealing or right action, or
conformity to this principle or ideal: righteousness.
Karyotype: The entire set of chromosomes of an individual cell made visible
by staining and microscopy and (karyogram) arranged by size and
chromosome number.
Knockout mouse: A mouse that has both copies of a specific gene
inactivated using recombinant-DNA technology.
Linkage analysis: A laboratory procedure that locates a gene of interest by
the presence of identifiable markers located close to the gene.
Linked genes: Genes located on the same chromosome. Genes that are
close together—tightly linked — are less likely to be separated during
recombination.
Locus (plural Loci): The position in a chromosome of a particular gene or
allele.
Marker (in the context of genetics): An identifiable allele that expresses a
known phenotype or a molecular tag (such as a DNA or RNA fragment) to
signal the presence of an allele or chromosomal location of interest. DNA
or RNA fragments also are used to bind to, and thus identify, a particular
genetic sequence in a nucleic acid fragment.
Materialism: A view of human nature derived from David Hume’s philosophy
that maintains that mind and choice are only manifestations of physical
phenomena (brain, nervous system, and body).

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Medicalization: The tendency to view undesirable or uncommon behaviors
as pathologies that require treatment.
Meiosis: A specialized process of cell division that reduces the chromosome
number to the single (haploid) complement (n). Meiosis takes place in
germline cells. Meiosis produces four haploid daughter cells from one
diploid cell, involving one round of DNA replication.
Mendelian genetics: The fundamental concepts of genetic transmission
introduced by Mendel and expanded to include knowledge of genetic
linkage and sex chromosomes.
Mental illness: Refers collectively to diagnosable disorders of the brain.
Mental disorders are characterized by abnormalities in cognition, emotion
or mood, or the highest integrative aspects of behaviour, such as social
interactions or planning of future activities.
Mitosis: The process of cell division that ensures that each daughter cell
receives an exact copy of the diploid (2n) complement of chromosomes.
Monozygotic (MZ) twins: Twins formed from a single fertilized egg
(identical twins). Identical twins share the same genetic endowment.
Mood disorders: Emotional behaviour inappropriate for one's age or
circumstances, characterized by, for example, unusual excitability, guilt,
anxiety, or hostility.
mRNA: Messenger RNA, the fully processed form of the transcript copied
from the DNAsequence of a gene and used to direct protein synthesis.
Multifactorial inheritance: Inheritance in which the phenotype results from
the combined action of genes and the environment.
Multigenic (Polygenic) traits: Characteristics (phenotypic outcomes)
determined by many different genes.
Mutation: The source of genetic variation. A change in the wild type (gene)
sequence or in the number or structure of chromosomes that may or may
not have observable effect or significant impact on health. If the mutation
occurs in the body (somatic cells), the results affect only the individual
bearing those cells; if the mutation is in germ-line cells, the change can be
transmitted to offspring.
Nature v. nurture: The controversy over whether genetic inheritance (our
innate nature) or environment (upbringing) determines behaviour. Since
both nature and nurture undoubtedly contribute to behaviour, this 'either-
or' thinking is not an accepted dichotomy by scientists.
Neoteny: The process in humans (and some other animals) in which stages
of growth and development are prolonged well past intrauterine life.
Nondisjunction: Improper separation of homologs or sister chromatids
during meiosis or mitosis. During meiosis, this process can result in a

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 diploid condition for a particular chromosome in one gamete and the
absence of that chromosome in another gamete.
Nontraditional inheritance: An informal term that refers to new concepts
of inheritance that describe processes that were not traditionally
understood or taught in Mendelian genetics. For example, imprinting is a
process not explained by traditional Mendelian concepts.
Novelty-seeking: The tendency to seek out and enjoy novel, and sometimes
risky, experiences.
Nucleotide: A building block of DNA and RNA.
Obsessive-Compulsive Disorder (OCD): An anxiety disorder characterized
by the presence of obsessions or compulsions; having one or both is
sufficient for the diagnosis. An obsession is a recurrent or persistent
thought that is intrusive or inappropriate. A compulsion is a repetitive
behaviour a person feels driven to perform. This behaviour can be a
physical action (e.g. hand washing) or a mental act (e.g. praying,
repeating words silently, counting.) The behaviour is aimed at neutralizing
anxiety or distress.
PCR: Polymerase chain reaction. A laboratory technique that exploits DNA
polymerases (enzymes that help replicate DNA) derived from bacteria that
live at high temperatures. The technique permits the invitro production of
large amounts of a specific DNA sequence from a very small amount of
sample DNA. The technique is often used to screen for DNA
polymorphisms in populations.
Penetrance: The proportion of individuals with a given genotype who
express any of the phenotypic features of the trait. Incomplete penetrance
refers to the situation in which less than 100 percent of individuals with a
given genotype express the associated phenotype.
Phenotype: The visible properties of an organism that are produced by the
interaction of the genotype and the environment. The entire physical,
biochemical, and physiological makeup of an individual as determined
both genetically and environmentally; also, any one or any group of such
traits.
Phenylketonuria (PKU): A genetic disorder that results from a deficiency of
a liver enzyme, phenylalanine hydroxylase. This lack of enzyme activity
results in a toxic buildup of phenylalanine metabolites that lead to tissue
damage and mental retardation. Newborns diagnosed with PKU can be
placed on a special diet, low in phenylalanine, that can prevent the onset
of mental retardation.
Polygenic inheritance: A phenotypic outcome that is determined by more
than one gene, such as many physical characteristics or diseases.

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Polymorphic (in relation to DNA): Literally, having more than one form, such
as different lengths for a restriction fragment or the presence of two or
more genetically distinct types in a population.
Primer: A short oligonucleotide sequence used to prime enzymatic reactions,
such as the polymerase chain reaction (PCR). In the case of PCR, the
primer is extended by a polymerase to form a longer DNA strand.
Prokaryote: A colonial or single-celled organism whose cells lack a
membrane-bound nucleus. A prokaryote has a relatively simple cell
structure without organelles such as mitochondria or chloroplasts.
Bacteria are prokaryotes.
Protein: Substances that consist of amino-acid residues joined by peptide
bonds. Many essential biological compounds such as enzymes, hormones,
or immunoglobulins are proteins.
Public policy: A set of guidelines or rules that results from the actions or lack
of actions of governmental entities.
Quantitative trait locus (QTL): One of multiple genes shown to affect a
specific trait.
Race: A classification of people on the basis of their phenotypic
characteristics that are presumed to be inheritable. The notion of race as
based on specific biological traits is not embraced by most scientists;
however, race as a social variable is viewed as a topic meriting scientific
investigation.
Recessive trait: Characteristic associated with genes that are reflected in
the phenotype only in the homozygous state (e.g., both copies of the
recessive allele are necessary to produce the characteristic).
Recessive: A pattern of inheritance in which the phenotypic effects of an
allele are masked in hetero zygotes when one of certain other alleles is
present. A trait expressed by recessive inheritance is called a recessive
trait. A recessive trait is expressed only in homozygotes.
Responsibility: The term has several meanings. To be "causally responsible"
is to cause something to happen, either directly or indirectly. To be "legally
responsible" is to be held accountable under the law and be subject to
legal consequences for one's actions. To be "morally responsible" is to
have a moral obligation, for which the fulfilment or failure to fulfil is
deserving of praise or blame. In both morality and law, one's responsibility
is judged in the context of the ability to understand the nature and
consequences of one's actions and to control one's behaviour.
Restriction endonuclease recognition site: A specific DNA sequence that
is recognized and cut (digested) by specific members of a class of
bacterial enzymes known as restriction enzymes. This process supplies a
naturally occurring immune function for bacteria and is exploited in the

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 laboratory to make possible cloning and other molecular techniques
involving specifically sized DNA fragments.
Restriction fragment length polymorphisms (RFLPs): the small
differences in the length of DNA fragments produced through cutting with
restriction enzymes (enzymes that cut DNA at specific sequences).
Genetic variation between individuals is reflected in small differences in
the length of DNA between the sites recognized by restriction enzymes,
thus producing RFLPs. These differences can be exploited to map the
location of genes.
Ribonucleic acid (RNA): A single-stranded nucleic acid that plays a central
role in protein synthesis and gene regulation. RNA contains ribose, in
contrast to the deoxyribose in DNA.
Ribosome: A structure within cells on which protein synthesis occurs.
Ribosomes are composed of ribosomal RNA and proteins.
Scatterplot: A graphical representation of correlation data.
Schizophrenia: A mental illness having a genetic component. It is
characterized by onset in early adulthood, deterioration in level of
function, and psychotic symptoms, such as auditory and visual
hallucinations and paranoia.
Short tandem repeats (STRs): A type of DNA polymorphism that is
characterized by varying numbers of repeats of a short DNA sequence
(usually 2–4 base pairs). STRs are used as markers to help locate new
genes and in forensic DNA testing.
Sibling pair analysis: An experimental approach for identifying genes that
affect quantitative traits. If pairs of siblings who share two alleles are more
alike for a quantitative trait locus (QTL) than pairs of siblings who share
one allele, who in turn are more alike than those who share zero alleles,
then the QTL is presumed to influence the trait.
Somatic cell: Any cell within the body that is not part of the germ line and
therefore does not contribute to genetic transmission to future
generations.
Stigmatization (in the context of genetics): A mark of thinking or behavior
that assumes that the characteristics of a set or population apply directly
to its members. It ignores variability and the individual response to
variability. It is an ethical error based on bad science.
Theory (in the context of science): An explanation of a fundamental principle
that has been so thoroughly tested and supported by multiple lines of
evidence that it is accepted by the scientific community.

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Transcription: The process through which an RNA molecule is synthesized by
complementary base pairing using DNA as a template. For example,
messenger RNA (mRNA) is a product of transcription.
Transgenic mouse: A mouse that has one or more genes added to its
genome using recombinant-DNA technology.
Translation: The process of synthesizing a protein molecule. An RNA
message (mRNA) directs the order of amino acids being bonded together
to form a protein. This process takes place on structures known as
ribosomes.
Trinucleotide repeat: A specific sequence of three nucleotides (subunits of
DNA) that is repeated, often in large numbers, in a continuous stretch of
DNA in particular genes. The mutant gene for Huntington disease, for
instance, contains the trinucleotide repeat CAG repeated many times. See
short tandem repeats.
Twin studies: An experimental approach that seeks to determine the relative
contribution of genetic effects to a trait. It involves comparing the
phenotypic similarities between identical twins (which share all their
genes) with the phenotypic similarities between fraternal twins (which
share half their genes, on average).
Validity (in the context of science): The condition of having met scientific
criteria, such as being supported by credible evidence, being built on
correct premises, and showing sound reasoning.
Variable expressivity: The range of phenotypic effects in individuals with a
given genotype. (Note that small differences in the genotype may be pre
sent but not obvious.)
Violence: Rough, injurious or abusive physical force, action, or treatment, or
an instance of such behaviour.
Wild type: The naturally-occurring genotype or phenotype for a given
organism.
X-linked trait: A pattern of inheritance in which the allele for the trait in
question is present on the X chromosome. Males have only one X
chromosome, inherited from the mother. For that reason, X-linked traits
cannot be passed from father to son.
Zygote: The cell that results from the fusion of a male gamete and a female
gamete. A fertilized ovum (egg cell) is a zygote.

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