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    Glossary of terms used in genetics
    
Allele One form of a gene. Many genes have two or more forms (alleles) that each give a different appearance or quality to the organism they are in. Different alleles of the same gene are usually symbolised with one letter. The capital letter is used for the dominant allele, while the  lower case letter is used for the recessive allele.   
Asexual This means "without sex". It is usually used when referring to reproduction in which one parent produces offspring without producing gametes. The offspring are exact replicas of the parent. E.g. Yeast budding, plants grown from cuttings. The reproduction of cells for growth is also asexual (see mitosis).
Bases In a molecule of DNA, these are the "rungs" on the "ladder". There are four of them, Adenine (A), Thymine (T), Guanine (G) and Cytosine (C). The bases are able to store genetic information. Each group of three bases on DNA codes for one amino acid in the protein it codes for. Bases are  found in pairs in a DNA molecule. A pairs with T. G pairs with C. This gives DNA the ability to make copies of itself during replication.
Not to be confused with the places you run around in baseball.
Centromere The constricted point where the two sides (chromatids) of a replicated chromosome join.
Chromatid A chromosome having only one DNA strand - not having two sides. Results from meiosis or mitosis in which the two sides (chromatids) of a replicated chromosome are pulled apart.
Chromosome A chromosome consists of a core of DNA which is associated with a number of protein molecules called histones. Most of the time, chromosomes are largely uncoiled and interwoven with other chromosomes in the nucleus of a cell. As the time for cell division approaches, chromosomes coil up and appear as an X shape. Each side is an exact copy of the other side.
Clone A cell or a whole organism that is an exact replica of another cell or organism.
Deoxyribonucleic
acid
Also called deoxyribose nucleic acid, this is the full name of DNA. DNA is the molecule in chromosomes that carries the genetic code. Its double helix structure was worked out in 1953 by Watson, Crick and Wilkins (a New Zealander), for which they received the Nobel Prize. Rosalind Franklin, whose work with X-ray crystallography helped them work out the structure, died before the prizes were awarded so she missed out.
Diploid Having the "double" number of chromosomes (2n), consisting of two sets of homologous chromosomes. In humans 2n = 46
Most plants and animals are diploid. In comparison, all gametes and some simple organisms (including some male insects such as bees) are haploid or monoploid.
Dominant An allele of a gene is said to be dominant if it is always expressed (has an effect) when present. A dominant allele will mask the presence of a recessive allele.
Egg The common name for an ovum. It is a gamete produced by meiosis cell division in the ovary of a female. Eggs are monoploid or haploid (n), having only one set of chromosomes. Eggs are usually much bigger than male gametes (sperm) and in most species eggs remain inside the female before fertilisation.
Embryo An early stage of development of an organism. It has grown beyond a ball of similar cells, but has not yet developed easily recognisable features.
F1 First Filial generation. This term is used to describe the offspring of  cross breeding two different, pure breeding (homozygous) varieties of a species.

For example, when pure breeding furry cats (HH) are crossed with pure breeding sphinx (hairless) cats (hh), the kittens produced are the F1.
All of the F1 kittens will be heterozygous (Hh) and show the dominant phenotype (furry).
F2 Second Filial generation. The resulting offspring of interbreeding heterozygous F1 individuals are called the F2 generation. The offspring would show a 3 to 1 ratio. Three quarters would show the dominant phenotype, the other quarter would show the recessive phenotype.

For example, if the heterozygous (Hh) furry cats mentioned above were mated with other Hh cats, the resulting kittens would be the F2 generation. You would expect about a quarter of the kittens to be hairless.
Fertilisation The joining of male and female gametes. That is, when a sperm cell fuses with an egg cell. Fertilisation restores the diploid chromosome number.
It's nothing to do with that smelly stuff that people put on gardens.
Gamete A sex cell, either sperm or egg, produced by meiosis. Gametes are haploid, containing only one set of chromosomes. Male gametes are usually smaller and mobile while female gametes are larger and often remain in the female.
Gene A unit of inheritance.
The unit of heredity passed on from parent to offspring
A part of a chromosome which controls a certain trait of an organism.
A segment of DNA which codes for a certain protein.
Genetics The study of how inherited traits in organisms are controlled within the organism and passed on to its offspring.
Genome All of the genes in a cell of an organism.
Or all of the genes/DNA code in an organism.
Or all of the genes/DNA code in a species
The Human Genome Project involves working out all of the base pairs in a representative sample of human DNA and mapping all the functional areas (genes) contained in the human DNA.
Genotype The alleles present in an organism for a certain gene.
A genotype can be written simply as symbols, e.g. Aa. 
OR, it can be a few words or a sentence.
E.g. Benny has two alleles for attached earlobes. Or, Rebecca is heterozygous for the freckle gene.
Haploid Having half the normal number of chromosomes - one member of each homologous pair. Or having one set of chromosomes (n). Also called the monoploid number. In humans, n = 23
All gametes and some simple organisms (including some male insects such as bees) are haploid or monoploid. In comparison, most plants and animals are diploid.
Helix The shape that results when a wire (for example) is wound around a cylinder with parallel sides.
Not to be confused with a spiral which would result if the wire were to be wound around a cone so that one end was wider than the other.
DNA structure is that of a double helix. Like a parallel-sided ladder that has been twisted around to form two helices - (don't try this at home with dad's ladder). 
Heterozygous Having two different alleles of a gene. E.g. having the genotype Aa or Bb.
Homologous Refers to chromosomes having the same form - shape, length, genes in the same order, centromere in the same position.
Diploid cells have two sets of homologous chromosomes.
During meiosis, homologous pairs of chromosomes temporarily join and swap pieces.
Homozygous Having two alleles the same for a gene.
This could be two dominant alleles or two recessive alleles.
Examples:
Homozygous dominant, e.g. DD 
Homozygous recessive, e.g. dd.
Locus The point on a chromosome where a gene under discussion is found. Often used in a sentence such as " the b allele is found at the same locus as the B allele".
Meiosis The special nuclear division that occurs only in gonads or other reproductive structures (female ovaries, male testes or anthers). It produces gametes (ova in females, sperm cells in males) which are haploid and used for sexual reproduction. Meiosis along with fertilisation contributes towards variation in a species as new gene combinations can occur. (See an animation))
Mitosis Normal cell division that is usually used for growth or replacement of cells. It can occur in all tissues throughout the organism and the daughter cells produced have the same chromosome number as the original cell. It is used for asexual reproduction in some species. Mitosis does not contribute to variation in a species as daughter cells have the same genes as the parent. (See an animation)
Monoploid Having one set of chromosomes (n). Or Having half the normal number of chromosomes - one member of each homologous pair. Also called the haploid number.
All gametes and some simple organisms (including some male insects such as bees) are haploid or monoploid. In comparison, most plants and animals are diploid.
Mutation Any change in the DNA, genes, or chromosomes in an individual or species. Mutations are caused by ionising radiation, some chemicals, mistakes during cell division and other agents. They are often harmful, but can be beneficial.
Mutations are the ultimate source of variation within a species and provide the raw material for evolution.
Nucleic acid A complex chemical which is a polymer (long chain of repeated sub-units) of nucleotides. Each nucleotide consists of a 5-carbon sugar. a phosphate group and a nitrogenous base.
There are two types; DNA, used in chromosomes to carry the genetic code and RNA of which there are three types used during the process of protein synthesis in cells.
Nucleus A membrane-bound structure found in cells. It contains the chromosomes, usually uncoiled and intertwined giving it a grainy appearance.
Offspring A word biologists use when talking about the young individuals produced by the parents in a genetic cross. In other words, children, kittens, puppies, foals, calves, seedlings and so on.
Organism A living thing, e.g. cat, dog, cabbage, bacterium, aardvark, pine tree.
Ovum An egg. Plural - ova. Haploid cell produced by meiosis in female gonads. It is not usual however to talk about having a couple of fried ova for breakfast.
Pedigree Family tree, often in the form of a diagram which shows two or more generations. Pedigree diagrams are used to trace the inheritance of a certain trait through the family. Females are symbolised by circles, males by squares. The symbols of individuals with the phenotype under study are shown shaded.
Animal breeders, for example dog enthusiasts, cat nuts and such-like, talk about pedigree animals, meaning they know their family tree and they have bits of paper to prove they are pure breeding for that variety, and they can charge you a lot of money for them.
Phenotype The outward appearance or the characteristics of an organism, usually in relation to a genetic trait under discussion. For example: a blue-eyed person, a tall pea plant, a corn plant that is sweet due to the production of sucrose. Phenotypes must be written in words, unlike genotypes which can be written in the symbols of the alleles present.
Protein A molecule which is a polymer of sub-units called amino acids. Genes have their effects by carrying a code which determines the order in which the amino acids are joined together in a protein. This order is very important in determining the job of the protein.
There are 20 amino acids found in living things and since proteins may have from twenty-odd, to thousands of amino acids of any sorts, the possible combinations are enormous.
Proteins have functions including structural components such as hair or connective tissue, to transportation helpers such as haemoglobin in red blood cells, to hormones - chemical messenger molecules such as insulin, to enzymes which help chemical reactions occur in cells. Proteins are also found helping form the structure of chromosomes as well as being important in the controlling of what genes are turned off or on in any one cell at any time.
Punnett square A diagram used to work out the possible genotypes of the offspring produced in a cross between parents of know genotypes.
Nothing to do with the little boxes strawberries come in.
The method was invented by British geneticist, Professor Reginald Crundall Punnett, (1875 - 1967). Many books leave off the final t when printing Punnet square.
Pure  breeding Homozygous. An organism that is pure breeding for a trait can be relied on to produce gametes with only one type of allele for that trait.
For example, all of the gametes produced by a pure breeding folded-eared cat will contain alleles for folded ears. All of the gametes from a pure breeding tall pea plant will contain alleles for tallness.
Recessive Refers to alleles that will show up or have their effect only when two of them are present. Recessive alleles can be hidden or masked if a dominant allele is present. Recessive alleles are usually symbolised by lower case letters.
Replication The process by which a DNA molecule makes two exact copies of itself by splitting in half between its base pairs then each side acts as a pattern to which new bases join (A to T, T to A, C to G and G to C). The two copies are seen as the two sides or chromatids of a chromosome in a cell which is ready to divide.
Ribonucleic acid RNA. This is similar to DNA but is only single stranded, has ribose sugar rather than deoxribose and has the base, uracil (U) in place of thymine (T). RNA molecules are also much shorter than DNA.
There are three types of RNA;
mRNA = messenger RNA which is made in the nucleus using the pattern of the DNA in a gene and carries the code out into the cytoplasm of the cell.
rRNA = ribosomal RNA which are found in ribosomes, the tiny organelles which provide an "active site" where the code on the mRNA is used to make a protein.
tRNA = transfer RNA molecules are short, cloverleaf shaped bits of RNA that pick up loose amino acids in the cell and bring them to the ribosome where they can be joined to make a protein.
Sexual To do with reproduction that involves the use of haploid gametes produced by meiosis in two parents. As compared with asexual which refers to reproduction that involves only one parent that produces offspring identical to itself by the process of mitosis.
Sexual reproduction results in reshuffling of gene combinations in the production of gametes and the production of new gene combinations during fertilisation of the ovum by the sperm. This contributes to variation in the offspring.
Sperm The male gamete produced by the process of meiosis in male gonads (testes) or anthers of flowering plants. Sperm cells are haploid, having one  set of chromosomes.
Trait A nice short word to use in place of characteristic. The proper way to pronounce it is "tray" (as it is French in origin).
Variation Having variety, a range of different phenotypes for one or more characteristics.
Variety is considered to be very important for the continuation of life. If a species has variety, it is likely that at least some individuals will survive a change of environmental conditions or the arrival of a new disease which has the potential to kill some or many individuals.
Mutation of genes is the original source of variety within a species. Sexual reproduction results in reshuffling of genes to produce new combinations which also contributes to variety.
Evolution is the gradual change in allele frequencies which results in the formation of sub-species, species, families and so on over very long periods of time. This would not be possible without the original variety.
Zygote The first cell formed when a sperm cell fuses with an egg cell. It is derived from a Greek word for yoke (used for harnessing animals to wagons) and has a meaning of pairing or joining together.
Nothing to do with goats really.

Author: R. Wood   contact email.                                                                                                  Return to top

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