GENETIC TERMS

Genetics is the study or science of genes and heredity. OR The study of inheritance patterns of
specific traits.

TERM MEANING

Chromosome A thread-like structure composed of deoxyribonucleic acid

(DNA) and protein, which contain genetic information in the
form of genes.

Gene The basic unit of heredity, composed of DNA, occupies a fixed

position on a chromosome and determines a specific
characteristic.

OR
A gene is a segment of the DNA molecule that encodes the
information necessary to direct the synthesis of one protein or
polypeptide

Allele The alternative form of a single gene.

OR

An allele is one of two or more forms of a gene arising by

mutation and occupying the same relative position or locus
(plural: loci) on homologous chromosomes. Alleles undergo
pairing during meiosis. A capital letter is used to denote a
dominant allele (e.g. A), and a lowercase letter is used to denote a
recessive allele (e.g. a).

Dominant and recessive alleles have different effects on the

phenotype of an organism.

Dominant An allele that is almost always expressed, even if only one copy
is present.

Dominant allele The allele that, if present, produces the same phenotype, whether
its paired allele is identical or different.
OR
A dominant allele is one that produces the same phenotypic
character whether the pair of alleles is heterozygous (one copy of
the dominant allele and one of the recessive allele) or
homozygous (two copies of the dominant allele).

Recessive allele The allele that only shows its effect on the phenotype if its paired
allele is identical.
OR
An allele that is masked in the presence of its dominant partner in
the heterozygote is said to be recessive. For example, the
homozygote AA and the heterozygote Aa have the same
phenotype. The homozygote is aa has a different phenotype.

Character A character is a feature of an organism, such as flower colour in

plants, feather colour in birds or fur colour in an animal.

Trait A trait is a particular form of a character (e.g. white flower, black

fur).

OR

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 Any detectable phenotypic property of an organism.

Dominant trait An inherited trait that results from the presence of a single
dominant allele. It is seen in an individual with one or two
dominant alleles.

Recessive trait An inherited trait that results from the presence of two recessive
alleles. It is only seen in an individual with no dominant allele.

Co-dominance Neither allele dominates the other such that the influence of both
alleles is visible in the heterozygous individual.

OR
Codominance is a situation where both alleles of a gene are
expressed equally in the phenotype of an individual.

Incomplete dominance A genetic phenomenon where neither allele completely masks the
expression of the other, resulting in a blend of traits in the
offspring. For example, pink flowers.

OR
Incomplete dominance is a situation where neither allele of a
gene is dominant, and instead, they both contribute to the
phenotype of an individual in a blended way.

Genome The complete genetic makeup or the collection of all genes of an

organism.

Genotype The combination of alleles present in an organism.

OR
The genotype is the sum total of all the genes present in an
individual.

Not all of the genes of an organism are expressed at the same

time. Some genes may be latent/inactive and not have any effect
on the organism at a particular point in time. Genes are the
building blocks of the phenotype of an organism

Phenotype The phenotype of an organism is the appearance of an organism

as influenced by the combination of genes and environmental
factors.
OR

The observable characteristics of an organism.

OR
The biochemical, physiological, and physical characteristics of an
individual, as determined by the genotype and the environment in
which it is expressed; also, in a more limited sense, the
expression of some particular gene or genes.

Locus (loci, plural) The actual location of the gene on a region of a chromosome.
OR
The position on a chromosome where a particular gene is always
found.

Homozygous (pure-breeding) Having two identical alleles in corresponding positions on a pair

of homologous chromosomes.

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Heterozygous Having two different alleles in corresponding positions on a pair
of homologous chromosomes.

Carrier An individual who possesses a mutant allele but does not express
it in the phenotype, either because of a dominant allelic partner or
because the mutation is nonpenetrant.

Progeny or Offspring A descendant or the descendants of a person, animal, or plant.

Mutation A mutation is a change in the structure or amount of the genetic

material of an organism.
OR
A natural or induced alteration in DNA structure or sequence.

Autosomes Are all the chromosomes other than the sex chromosomes. The
gametes of humans have 22 autosomes and one sex chromosome,
making a total of 23 chromosomes. The sex chromosomes in
humans are called the X and Y chromosomes. Females have two
X chromosomes, and males have an X and a Y chromosome.
OR
A chromosome not involved in sex determination. The diploid
human genome consists of a total of 46 chromosomes: 22 pairs of
autosomes and one pair of sex chromosomes (the X and Y
chromosomes).

Parental generation Are the two individuals which produce progeny (offspring). The
parental generation can be designated with the letter P.

First filial generation The progeny of this cross (a cross between the parental
generation).

The breeding of the first filial generation leads to the second filial
generation or F2.

Monohybrid inheritance Is the passing down of a single characteristic from parent to

offspring.

Examples of these single characteristics in human inheritance are

blood groups and the ability to make the skin pigment melanin.

Sex-linked inheritance Sex-linked inheritance is a type of inheritance that is determined

by genes found on the X or Y chromosomes. These chromosomes
are different in males and females, which affects the way traits
are passed on from one generation to the next.

Genetic engineering. Altering the genetic structure of an organism by adding foreign

genes or altering or removing native genes through
biotechnology.
OR
Altering the genetic material of cells or organisms to enable them
to make new substances or perform new functions.

Genetically modified organisms A plant or animal whose genetic material (DNA) has been altered
(GMO) through genetic engineering/biotechnology techniques
(insertion/deletion of genes) to produce a genotype that possesses
a modified trait that is not found in naturally occurring plants of
that species. When genes are inserted, they usually come from a
different species. The principle of producing a GMO is to add
new genetic material into an organism’s genome.

In agriculture, genetically modified crops are developed to 1)

contain desirable traits such as resistance to pests, herbicides,

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 and/or environmental stresses and 2) improve storage life and
nutritional value.

Clone A genetically engineered exact copy of biological material such

as a DNA segment (e.g., a gene or other region), a whole cell, or
a complete organism.

Gene therapy An experimental procedure aimed at replacing, manipulating, or

supplementing nonfunctioning or misfunctioning genes with
healthy genes.

Gene transfer Incorporation of new DNA into an organism's cells, usually by a

vector such as a modified virus. It is used in gene therapy.

Genetic counselling The educational process that helps individuals, couples, or

families to understand genetic information and issues that may
have an impact on them.

Karyotype A set of photographed, banded chromosomes arranged in order

from largest to smallest in a standard format showing the number,
size, and shape of each chromosome type.

Pedigree A family tree diagram that shows how a particular genetic trait or
disease has been inherited through many generations of a family.

Recombinant DNA technology A procedure used to join together DNA segments in a cell-free
system (an environment outside a cell or organism).

Genetic diagrams Genetic diagrams are used to predict the possible outcomes of a
genetic cross. They help explain how genes are inherited from
parents to offspring.

OR
Genetic diagrams show how characteristics are inherited.

Two main types of genetic diagrams are used: Punnett squares

and pedigree charts.

Test cross or Back cross A method by which it can be determined whether a given
individual showing a dominant trait is homozygous (AA) or
heterozygous (Aa).

A test cross is also known as a back cross, as it frequently

involves crossing an offspring (F1 ) with a parent generation
organism (P). In the test cross, the individual showing the
dominant trait is crossed with an individual known to be
homozygous for the recessive trait. An individual that is
homozygous for a recessive trait shows the physical
characteristics or phenotype that is recessive.

Eugenics The study of improving a species by artificial selection usually

refers to the selective breeding of humans.

Cystic fibrosis An autosomal recessive genetic condition of the exocrine glands,

which causes the body to produce excessively thick, sticky mucus
that clogs the lungs and pancreas, interfering with breathing and
digestion.

Vector A plasmid used for carrying cloned DNA.

Plasmid A heritable piece of DNA that is not part of a chromosome.

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 References

Characteristics - Genetic Diagrams and Terminology (CCEA) - GCSE Biology (Single Science)

Revision - CCEA - BBC Bitesize.” 2023. BBC Bitesize. March 29, 2023.

https://www.bbc.co.uk/bitesize/guides/z3thmsg/revision/1.

Durant, C. (2013). Biology For CAPE® Examinations. Macmillan Education.

Heatherly, L. G., & Pantalone, V. R. (2020, April). genetics-terminology-apr-2020_1.

Mississippi; Mississippi Soybean Promotion Board. www.mssoy.org)

Study Rocket. 2024. “Genetic Diagrams – GCSE Biology a (Triple) OCR Revision – Study

Rocket.” Study Rocket (blog). January 10, 2024.

https://studyrocket.co.uk/revision/gcse-biology-a-triple-ocr/genes-inheritance-and-selecti

on/genetic-diagrams.

Laurian McCalla NSD: BIO 2024