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Topic 5 - Mutation and Variation

The document discusses different types of genetic variation including genetic, environmental, and a combination of both. It describes continuous variation seen in traits like height and discontinuous variation seen in blood types. It also discusses the difference between genotypic and phenotypic variation and various sources of genetic variation such as mutations, recombination, and genetic drift.

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Tukamushaba Bismark
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17 views

Topic 5 - Mutation and Variation

The document discusses different types of genetic variation including genetic, environmental, and a combination of both. It describes continuous variation seen in traits like height and discontinuous variation seen in blood types. It also discusses the difference between genotypic and phenotypic variation and various sources of genetic variation such as mutations, recombination, and genetic drift.

Uploaded by

Tukamushaba Bismark
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPTX, PDF, TXT or read online on Scribd
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Inheritance and variation

Variation is all the differences that exist in a population of


the same species. These differences are caused by:
 Genetic variation - these are differences between
individuals that are inherited from parents, such as the
colour of your eyes, hair and skin.
 Environmental variation - these are differences between
individuals that are not inherited but caused by the
environment that the organism lives in, including scars
and tattoos.
 Genetic and environmental variation - differences
between individuals that are caused by both genetic and
environmental factors, such as height and weight.
Types of variation
• Data on variation is collected by surveying the population. This data can
be described as either continuous variation or discontinuous variation.
Continuous Variation
• Human height is an example of continuous variation. It ranges from that
of the shortest person in the world to that of the tallest person. Any
height is possible between these values, so this is continuous variation.
For example, you can be 150 cm tall, 151 cm tall, or any height in
between this.
• So, a characteristic that changes gradually over a range of values shows
continuous variation. Examples of such characteristics are:
 height
 arm span
 Weight
Discontinuous variations
• Human blood groups are an example of discontinuous variation.
In the ABO blood group system, only four blood groups are
possible - A, B, AB or O.
• Qualitative differences fall
into discrete and distinguishable categories, usually with no
intermediates .
• You cannot have a blood group in between these four groups, so
this is discontinuous variation.
• Here are some examples:
 blood group
 eye colour
• Qualitative differences in the phenotypes of individuals within a
population give rise to discontinuous variation.
Genotypic Vs phenotypic variation

• Organisms show:
– Genetic variation - the variation in genotypes (i.e. the genes)
between species or within a species
– Phenotypic variation - the variation in phenotypes (i.e.
anything other features apart from the genes) between species
or within a species e.g. variation in height, mass, shape, colour,
blood type
• As described above, genetic and phenotypic variation can
occur between different species or within a single species
– Interspecific variation is the variation between species
– Intraspecific variation is the variation within species
Sources of variation

• Mutations
• Recombination of genes/Hybridization
• Physical mutagens
• Genetic drift
Mutations
• Mutations may occur either at DNA or chromosome level.
DNA mutations
• There are three types of DNA Mutations: base
substitutions, deletions and insertions.
i. Single base substitutions are called point mutations,
recall the point mutation Glu -----> Val which causes
sickle-cell disease.
• Point mutations are the most common type of mutation.
• Point mutations that occur in DNA sequences encoding
proteins are either silent, missense or nonsense.
Deletions and Insertions
Deletions
• A deletion, resulting in a frameshift, results when one or more base
pairs are lost from the DNA .
• If one or two bases are deleted the translational frame is altered
resulting in a garbled message and nonfunctional product.
• A deletion of three or more bases leave the reading frame intact.
• A deletion of one or more codons results in a protein missing one or
more amino acids. This may be deleterious or not.
Insertions
• The insertion of additional base pairs may lead to frameshifts
depending on whether or not multiples of three base pairs are
inserted.
• Combinations of insertions and deletions leading to a variety of
outcomes are also possible.
Chromosomal mutations
• Chromosomal alterations are mutations that
change chromosome structure.
• They occur when a section of a chromosome
breaks off and rejoins incorrectly or does not
rejoin at all.
• Chromosomal alterations are very serious.
• They often result in the death of the organism
in which they occur. If the organism survives, it
may be affected in multiple ways.
Abnormal Chromosome Number

• In Nondisjunction, pairs of homologous


chromosomes do not separate normally during
meiosis.
• As a result, one gamete receives two of the
same type of chromosome, and another gamete
receives no copy.
• Aneuploidy results from the fertilization of
gametes in which nondisjunction occurred
• Offspring with this condition have an abnormal
number of a particular chromosome
Abnormal Chromosome Number

• A Trisomic zygote has three copies of a


particular chromosome.
• A Monosomic zygote has only one copy of a
particular chromosome.
• Polyploidy is a condition in which an organism
has more than two complete sets of
chromosomes.
Human Disorders Due to Chromosomal
Alterations
1. Down’s syndrome
• Down Syndrome is an aneuploidy condition
that results from three copies of chromosome
21.
• The frequency of Down Syndrome increases
with the age of the mother.
• It is a duplication mutation that leads to
developmental delays and other abnormalities.
Down’s syndrome symptoms
• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Small hands and feet
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults
Aneuploidy of Sex Chromosomes
• Nondisjunction of sex chromosomes produces
a variety of aneuploid conditions
• Klinefelter syndrome is the result of an extra
chromosome in a male, producing XXY
individuals
• Monosomy X, called Turner syndrome,
produces X0 females, who are sterile; it is the
only known viable monosomy in humans

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