One of various versions of the same gene (at the same locus) distinguished by small differences in the DNA sequence
Aneuploidy
Describes a genome that varies from the conventional genome through the loss or addition of one or a few chromosomes
Apoptosis
A programmed series of events that leads to cell death as a result of the dismantling of the internal contents of the cell by various enzymes, including caspases
Behaviour
Responses and reactions of an organism in particular situations
Beneficial mutation
A mutation that increases an organism’s chances of survival and reproduction
Chiasma
The point of contact between two (non-sister) chromatids belonging to a set of maternal and paternal homologous chromosomes where crossing over may occur
Chromatin
The complex of proteins and DNA found in eukaryotic non-dividing cells
Cloning vector
In cloning, the vector is the DNA molecule that is used to carry the cloned piece of DNA
Codon
A set of three consecutive nucleotides found in a DNA or an mRNA molecule; it carries a code for a specific amino acid
Crossing over
An event during meiosis, in which homologous chromosomes (non-sister chromatids) exchange alleles (genetic segments) with one another
Deleterious mutation
A mutation that decreases an organism’s chances of survival and reproduction
Deletion mutation
A mutation in which one or more nucleotide pairs have been lost from a segment of DNA
Diploid (2n)
Describes a cell or organism that has a genome that contains two copies of each chromosome, represented by 2n
Double-strand break
A mutation involving breaks in the sugar–phosphate backbones of both DNA strands at the same nucleotide pair, resulting in the complete breakage of a chromosome
Expressed
Describes a gene that has been read, transcribed and translated into a protein
Fertilisation
The union of haploid male and female gametes during sexual reproduction to produce a diploid zygote; the random union of gametes is known as random fertilisation
Frameshift mutation
A mutation that changes the reading frame used in translation, during polypeptide synthesis
Gamete
A sex cell; it can be a male or female sex cell and has a haploid number of chromosomes
Gene
A unit of heredity that transmits information from one generation to the next; a segment of DNA that codes for a polypeptide
Genetic code
The way that the four nitrogenous bases of DNA (adenine, thymine, guanine and cytosine) are ordered and contain information to direct the creation of specific proteins
Genome
All of the genetic material contained in an organism or a cell; it includes the chromosomes within the nucleus and the DNA in mitochondria and chloroplasts
Genotype
The specific combination of alleles for each gene locus that belongs to an individual or cell
Germline cell
The cell line in eukaryotic organisms from which the gametes are derived
Haploid (n)
Describes a cell or organism that has a genome that contains one copy of each chromosome; represented by n
Heredity
The study of inheritance; the genetic transmission of characteristics from one generation to another
Homologous chromosome
A pair of chromosomes that have the same size and shape; they have genes at the same locations; one is maternal and one is paternal
Horizontal gene transfer
The process by which genetic material from one organism becomes incorporated into the genome of another organism
Independent assortment
The random orientation of maternal and paternal homologous chromosomes at the equator during metaphase I; the orientation of each homologous pair is randomly to one side or the other, and each pair is unaffected by the orientation of any other homologous pair
Insertion mutation
A mutation in which one or more nucleotide pairs have been added to a segment of DNA
Intraspecific variation
Differences between individuals of the same species
Karyotype
A display that presents the number and appearance of the chromosomes of an organism
Karyotype
A display that presents the number and appearance of the chromosomes of an organism or cell as observed at metaphase
Meiosis
Involves two rounds of cell division, but only one round of DNA replication; during meiosis, the chromosome number of a cell is halved
Missense mutation
A gene mutation that results in one amino acid being replaced by another amino acid in the encoded protein
Monoploid (1n)
Describes a cell or organism that has a functional genome consisting of one copy of each chromosome, represented by 1n
Monosomy
The condition in which somatic cells of an organism are missing one copy of a particular chromosome
Mutagen
An agent capable of inducing mutations
Mutant
A cell or organism that bears a mutation
Mutation
A permanent change in the DNA sequence of a gene; a source of new alleles in a population’s gene pool; the process of generating a mutation
Mutation rate
The number of changes per gene copy in a population over a period of time