Genetic Terms and Definitions

Adenine (A): A nitrogenous base, one member of the base pair A- T (adenine- thymine).

Alleles: Alternative forms of a genetic locus; a single allele for each locus is inherited separately
from each parent (e.g., at a locus for eye color the allele might result in blue or brown eyes).

Amino acid: Any of a class of 20 molecules that are combined to form proteins in living things.
The sequence of amino acids in a protein and hence protein function are determined by the genetic
code.

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).

Back Cross: A cross between a Hybrid breed and an original breed.

Base pair (bp): Two nitrogenous bases (adenine and thymine or guanine and cytosine) held
together by weak bonds. Two strands of DNA are held together in the shape of a double helix by the
bonds between base pairs.

Base sequence: The order of nucleotide bases in a DNA molecule.

Centromere: A specialized chromosome region to which spindle fibers attach during cell division.

Chromosomes: The self- replicating genetic structures of cells containing the cellular DNA that
bears in its nucleotide sequence the linear array of genes. In prokaryotes, chromosomal DNA is
circular, and the entire genome is carried on one chromosome. Eukaryotic genomes consist of a
number of chromosomes whose DNA is associated with different kinds of proteins.

Cloning: The process of asexually producing a group of cells (clones), all genetically identical,
from a single ancestor.

Crossing over: The breaking during meiosis of one maternal and one paternal chromosome, the
exchange of corresponding sections of DNA, and the rejoining of the chromosomes. This process
can result in an exchange of alleles between chromosomes. Compare recombination.

Cytosine (C): A nitrogenous base, one member of the base pair G- C (guanine and cytosine).

Diploid: A full set of genetic material, consisting of paired chromosomes one chromosome from
each parental set. Most animal cells except the gametes have a diploid set of chromosomes. The
diploid human genome has 46 chromosomes. Compare haploid.

DNA (deoxyribonucleic acid): The molecule that encodes genetic information. DNA is a double-
stranded molecule held together by weak bonds between base pairs of nucleotides. The four
nucleotides in DNA contain the bases: adenine (A), guanine (G), cytosine (C), and thymine (T). In
nature, base pairs form only between A and T and between G and C; thus the base sequence of each
single strand can be deduced from that of its partner.

DNA replication: The use of existing DNA as a template for the synthesis of new DNA strands. In
humans replication occurs in the cell nucleus.
DNA sequence: The relative order of base pairs, whether in a fragment of DNA, a gene, a
chromosome, or an entire genome. See base sequence analysis.

Dominant: A gene which is always expressed when present

Double helix: The shape that two linear strands of DNA assume when bonded together.

F1 (Cross) Hybrids: A cross between two pure bred lines producing offspring with desirable
characteristics and hybrid vigour

Gamete: Mature male or female reproductive cell (sperm or ovum) with a haploid set of
chromosomes (23 for humans).

Gene: The fundamental physical and functional unit of heredity. A gene is an ordered sequence of
nucleotides located in a particular position on a particular chromosome that encodes a specific
functional product (i.e., a protein or RNA molecule). See gene expression.

Genetics: The study of the patterns of inheritance of specific traits.

Genetic Modification: The altering of the genetic mak-up of an organism to produce esirale traits

Genome: All the genetic material in the chromosomes of a particular organism; its size is generally
given as its total number of base pairs.

Genome projects: Research and technology development efforts aimed at mapping and sequencing
some or all of the genome of human beings and other organisms.

Genotype: The actual genes present for a characteristic (compare phenotype)

Guanine (G): A nitrogenous base, one member of the base pair G- C (guanine and cytosine).

Haploid: A single set of chromosomes (half the full set of genetic material), present in the egg and
sperm cells of animals and in the egg and pollen cells of plants. Human beings have 23
chromosomes in their reproductive cells. Compare diploid.

Heterozygous: When the genes for a particular gene are different.

Homozygous: When the genes for a particular trait are the same

Homologous chromosomes: A pair of chromosomes containing the same linear gene sequences,
each derived from one parent.

Human gene therapy: Insertion of normal DNA directly into cells to correct a genetic defect.

Interphase: The period in the cell cycle when DNA is replicated in the nucleus; followed by
mitosis.

Incomplete Dominance: Occurs when neither allele is dominant over the other and the resultant
phenotype is a mix of the two gene traits.

Linkage: The proximity of two or more genes on a chromosome; the closer together the markers
are, the lower the probability that they will be separated during DNA repair or replication processes
(binary fission in prokaryotes, mitosis or meiosis in eukaryotes), and hence the greater the
probability that they will be inherited together.
Locus (pl. loci): The position on a chromosome of a gene or other chromosome marker; also, the
DNA at that position. The use of locus is sometimes restricted to mean regions of DNA that are
expressed. See gene expression.

Meiosis: The process of two consecutive cell divisions in the diploid progenitors of sex cells.
Meiosis results in four rather than two daughter cells, each with a haploid set of chromosomes.

Messenger RNA (mRNA): RNA that serves as a template for protein synthesis.

Metaphase: A stage in mitosis or meiosis during which the chromosomes are aligned along the
equatorial plane of the cell.

Mitosis: The process of nuclear division in cells that produces daughter cells that are genetically
identical to each other and to the parent cell.

Mutation: Any heritable change in DNA sequence.

Multiple Alleles: Many different forms of the same gene e.g. Eye colour

Nucleic acid: A large molecule composed of nucleotide subunits.

Nucleotide: A subunit of DNA or RNA consisting of a nitrogenous base (adenine, guanine,

Nucleus: The cellular organelle in eukaryotes that contains the genetic material.

Performance testing: A comparison of growth rates of animals under similar conditions

Phenotype: The physical expression of the genotype (i.e. Bb gives brown)

Polyploidy: Having three or more sets of chromosomes which generally leads to infertility

Progeny Testing: Testing of the performance of offspring relative to their parents

Prokaryote: Cell or organism lacking a membrane- bound, structurally discrete nucleus. Bacteria
are prokaryotes. Compare eukaryote. See chromosomes.

Recessive: A gene that is not expressed in the presence of a dominant gene

Ribosomes: Small cellular components composed of specialized ribosomal RNA and protein; site
of protein synthesis. See ribonucleic acid (RNA).

Sex chromosomes: The X and Y chromosomes in human beings that determine the sex of an
individual. Females have two X chromosomes in diploid cells; males have an X and a Y
chromosome. The sex chromosomes comprise the 23rd chromosome pair in a karyotype. Compare
autosome.

Sex Linkage: The inheritance of genes which are located on the X chromosome.

Somatic cells: Any cell in the body except gametes and their precursors.

Thymine (T): A nitrogenous base, one member of the base pair A- T (adenine- thymine).
Transcription: The synthesis of an RNA copy from a sequence of DNA (a gene); the first step in
gene expression. Compare translation.

Transfer RNA (tRNA): A class of RNA having structures with triplet nucleotide sequences that are
complementary to the triplet nucleotide coding sequences of mRNA. The role of tRNAs in protein
synthesis is to bond with amino acids and transfer them to the ribosomes, where proteins are
assembled according to the genetic code carried by mRNA.

Transformation: A process by which the genetic material carried by an individual cell is altered by
incorporation of exogenous DNA into its genome.

Translation: The process in which the genetic code carried by mRNA directs the synthesis of
proteins from amino acids. Compare transcription.

Uracil: A nitrogenous base normally found in RNA but not DNA; uracil is capable of forming a
base pair with adenine.

Variation: Differences amongst individuals of the same species.

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