18.

1: Variation
Objectives
• Describe variation as differences between individuals of the same species
• State that continuous variation results in a range of phenotypes between two extremes; examples include body length
and body mass
• State that discontinuous variation results in a limited number of phenotypes with no intermediates; examples include
ABO blood groups, seed shape in peas and seed color in peas
• State that discontinuous variation is usually caused by genes only and continuous variation is caused by both genes and
the environment
• Investigate and describe examples of continuous and discontinuous variation
• Describe mutation as genetic change
• Describe gene mutation as a random change in the base sequence of DNA
• State that mutation, meiosis, random mating and random fertilization are sources of genetic variation in populations
• State that mutation is the way in which new alleles are formed
• State that ionising radiation and some chemicals increase the rate of mutation
Variation

• Variation: is the difference between individuals of the same species

• Ex, all domestic cats belong to the same species, i.e. they can interbreed, but there are many variations of size, coat
color, fur length…
 Continuous and discontinuous variations
• Discontinuous variation: variations that take the form of distinct, alternative phenotypes with no intermediates.
ex, mice could be either black or brown, being either a male or a female, rolling the
tongue or no rolling of the tongue, blood groups…
Discontinuous variations cannot be altered by the environment

• Continuous variation: variations that show a range of phenotypes

between two extremes.
ex, height in humans, skin tone, weight…
Continuous variations are due to the combined effects of genes and the environment.
ex, there many genes that control height in humans. Each dominant allele adds more to your height. At the same time, the
environment may also influence your height (diet, stretching exercises..).
• Some characteristics can be considered as both discontinuous and continuous

• Ex, human hair color appears in a range from black to blond with many intermediate colors (it shows continuous
variation as a result of the involvement of many genes)
but the gene for red hair is masked by every other hair color gene (which shows a discontinuous variation:
the hair is either red or not red)

• Ex, eye color can be identified as brown or not brown (classified as discontinuous), or it can be put into a
range of many intermediate classes (classified as continuous)
Causes of variation

Characteristics are inherited, but they may be altered, increasing variation, as a result of

1. sexual reproduction
2. mutation
1. Sexual reproduction
Independent assortment

-Meiosis (Crossing over, independent assortment)

-Random mating
-Random fertilization

They all lead to genetic variation

2. Mutations

• Mutation: is a spontaneous genetic change. It is the way in which new alleles are formed.

• The combined effects of mutation and sexual reproduction lead to enormous variation between individuals

• Mutations arise because of: - mistakes in the copying of DNA (pairing with the incorrect base)
- uneven distribution of chromosomes during cell division
- damage of the DNA (some environmental factors alter the bases in DNA)
 Chromosome mutations
• Chromosome mutations: occur when cell division fails to work with complete accuracy (damage or loss of a part of
chromosome during mitosis or meiosis, or gain of extra chromosome as in Down’s Syndrome)

Down’s syndrome :
-Mental and physical disability resulting from a chromosome mutation.
-Non-disjunction of homologous chromosomes of pair 21: the chromosome fail to separate from its homologous partner during
meiosis.
As a result, the ovum carries 24 chr. instead of 23, and thus the zygote gets 47 chr. rather than 46.
(broad forehead, short nose, short neck, fold in eyelid, downward-sloping eyes, mental retardation, protruding tongue…)
Gene mutations
Gene mutation: a change in the base sequence of DNA: when a part of the DNA on a single chromosome is changed.

Defective proteins are produced, or no protein at all.

Ex, sickle cell anemia (triplet CTT is replaced by CAT producing the amino acid valine instead of glutamic acid)
a person receives both recessive alleles (HbSHbS) for defective hemoglobin
this leads to low oxygen concentrations carried to body tissues and severe anemia.
Heterozygous people (HbAHbS) have very mild or no symptoms of anemia, but they have the advantage that they are more resistant to malaria
than the homozygotes HbAHbA (because it appears that the malaria parasite (protozoa) is unable to invade and reproduce in the sickle-shaped
cells).
The selection pressure of malaria favors the heterozygotes over the homozygotes and the potentially harmful Hb S allele is kept in the population.
when Africans migrate to countries where malaria does not occur, the selective advantage of the Hb S is lost and the frequency of this allele in
the population diminishes.
• Mutagen: a factor that increases the rate of mutation
• Important mutagens are:
1. Ionizing radiation: X rays and radioactive compounds, and ultraviolet radiation from sunlight
(exposure to high doses or repeated exposure to low doses have the same effect in causing mutations)
2. Chemicals: like tar in tobacco smoke, high concentration of some preservatives and some plant control
hormones.

• Mutations can be linked with cancer.

• Carcinogen: is a mutagen that causes uncontrolled cell division

• If a mutation occurs in a gamete, it will affect all the cells of the individual that develops from the zygote (the whole
organism will be affected)
• If a mutation occurs in a somatic cell, it will affect only the cells produced from this cell by mitosis
• Mutations may result in genetic disorders. Mutations in somatic cells may give rise to cancers by promoting uncontrolled
cell division in the affected tissue
Advantage of Mutations

• Not all mutations are harmful. Some add benefit to organisms by aiding them adapt to their environments

• Ex, Almond seeds from wild species contain a bitter chemical that converts into cyanide inside the human
body which could be fatal. A single gene mutation in wild almond trees resulted in a variety that no longer
synthesizes this chemical.

• Ex, malaria resistance

• Ex, antibiotic resistance in bacteria

Mutations in bacteria
• Mutations in bacteria often produce resistance to drugs

• Bacteria reproduce very quickly as often as once every 20 minutes

• If a mutation occurs in a large population of bacteria, non-resistant bacteria will be killed but drug-resistant mutants
survive

• Mutant genes are inherited in the same way as normal genes, so when the surviving mutant bacteria reproduce, all
the offspring will be resistant to the drug

• BUT in general, Mutations are rare events; they might occur one in every 100000 replications