A Level Biology

Genetic diversity can arise as a

result of mutation or during meiosis

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Mutations

▪ Most genes have several different variants called alleles. A gene is made up of a
sequence of nucleotides, each with its own base. The different alleles of a gene
contain slightly different sequences of bases.
▪ These different alleles originally arose by a process called mutation. Mutation is an
unpredictable change in the genetic material of an organism. A change in the
structure of a DNA molecule, producing a different allele of a gene, is a gene
mutation. Mutations may also cause changes in the structure or number of whole
chromosomes in a cell, in which case they are known as chromosome mutations
(or chromosome aberrations).

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Causes of mutations

▪ Mutations may occur completely randomly, with no obvious cause. However, there
are several environmental factors that significantly increase the chances of a
mutation occurring. All types of ionising radiation (alpha, beta and gamma radiation)
can damage DNA molecules, altering the structure of the bases within them.
▪ Ultraviolet radiation has a similar effect, as do many chemicals- for example, mustard
gas. A substance that increases the chances of mutation occurring is said to be a
mutagen.

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In gene mutations, there are three different ways in which the sequence of bases in a gene
may be altered. These are:
1. Base substitution, where one base simply takes the place of another; for example,
CCT GAG GAG may change to CCT GTG GAG
2. Base addition, where one or more extra bases are added to the sequence; for
example, CCT GAG GAG may change to CCA TGA GGA G
3. Base deletion, where one or more bases are lost from the sequence; for example, CCT
GAG GAG may change to CCG AGG AG

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▪ Base additions or deletions usually have a very significant
effect on the structure, and therefore the function of the
polypeptide that the allele codes for.
▪ Base substitutions, on the other hand, often have no effect
at all. A mutation that has no apparent effect on an
organism is said to be a silent mutation.

▪ Base substitutions are often silent mutations because many amino acids have more than
one triplet code, so even if one base is changed, the same amino acid is still coded for.
▪ However, base substitutions can have very large effects. Suppose, for example, the base
sequence ATG (coding for Tyr) mutated to ATT. This is a ‘stop’ triplet, so the synthesis of
the protein would stop at this point.

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Genetic diversity

▪ Genetic diversity is the diversity of alleles within the genes in the genome of a single
species. All the individuals of a species have the same genes, but they do not all
have the same alleles of those genes.
▪ The increase of genetic diversity in a population occurs by,
1. DNA mutation which causes new allele formation.
2. Introduction of new alleles into a population when individuals of another
population happens to migrate into them and reproduce - gene flow.
▪ Genetic diversity facilitates natural selection.

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The importance of meiosis

▪ For the life cycle to contain sexual reproduction, there must be a point before
fertilisation takes place when the number of chromosomes is halved. If there were no
point in the lifecycle when the number of chromosomes halved, then the number of
chromosomes would double every generation. The type of nuclear division that
halves the chromosome number is called meiosis. Gametes are always haploid as a
result of meiosis.
▪ Meiosis does more than halve the number of chromosomes in a cell. Meiosis also
introduces genetic variation into the gametes and therefore the zygotes that are
produced.

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Meiosis
▪ Unlike mitosis, meiosis involves two
divisions, called meiosis I and
meiosis II.
▪ Meiosis I is a reduction division,
resulting in two daughter nuclei with
half the number of chromosomes of
the parent nucleus.
▪ In meiosis II, the chromosome
behaves as in mitosis, so that each
of the two haploid daughter nuclei
divides again.
▪ Meiosis therefore results in a total of
four haploid nuclei.
▪ Two of the events that take place
during meiosis help to produce
genetic variation between the
daughter cells that are produced.
▪ These are independent assortment
of the homologous chromosomes,
and crossing over, which happens
between the chromatids of
homologous chromosomes.
▪ When these genetically different
gametes fuse, randomly, at
fertilisation, yet more variation is
produced amongst the offspring.
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Meiosis I
1. Early prophase I
 as mitosis early prophase

2. Middle prophase I
 Homologous chromosomes pair up. This
process is called synapsis. Each pair is
called a bivalent.
 Centrosome move to opposite ends of
nucleus, as in mitosis.

3. Late prophase I
Bivalent showing crossing over:
 Nuclear envelope breaks up as in mitosis
 Chromatids may break and may reconnect to another chromatid.
 Crossing over of chromatids may occur.
 chiasma= point where crossing over occurs (plural;chiasmata)
 Nucleolus ‘disappears’ as in mitosis.
 One or more chiasmata may form, anywhere along length.
 At the end of prophase I a spindle is formed.

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 4. Metaphase I (Showing crossing over of
long chromatids)
 Bivalents line up across equator of spindle,
attached by centromeres.
 Spindle is formed, as in mitosis.

An example showing four possible genetic

combinations for the gametes.
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5. Anaphase I 6. Telophase I
▪ Centromeres do not divide, unlike in Nuclear envelope re-forming
mitosis.
Nucleolus re-forming as mitosis
▪ Whole chromosome move towards
Cytokinesis
opposite ends of spindle, centromeres
first, pulled by microtubules. Remains of spindle

 Chromosomes have reached the poles of

spindle.
 Animal cells divide usually before entering
meiosis II. Many plant cells go straight into
meiosis II with no reformation of nuclear
envelopes or nucleoli. During meiosis II,
chromatids separate as in mitosis.

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Meiosis II
7. Prophase II
▪ Nuclear envelope and nucleolus disperse.
▪ Centrosomes and centrioles replicate and
move to opposite poles of the cell.

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8. Metaphase II 9. Anaphase II
▪ Chromosomes line up separately ▪ Centromeres divide and spindle
across the equator of spindle. microtubules pull the chromatids to opposite
poles.

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The process of
chromosome alignment
differs between meiosis
I and meiosis II.

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10. Telophase II
▪ This is like telophase of mitosis, but in
meiosis telophase II four haploid
daughter cells are formed.

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Meiosis vs Mitosis

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