Genetics and Inheritance
Paper 2 (45 marks) – Part 2
What is a mutation?
Mutations are alterations/changes in the sequence of DNA or alterations in chromosome structure. A
change in a nucleotide sequence on a DNA molecule is called a gene mutation. A change in the
number or structure of chromosomes is called a chromosomal mutation (e.g. Down syndrome, due
to an extra copy of chromosome 21 as a result of non-disjunction during meiosis).
If the DNA sequence, of a particular gene, suddenly changes then this will form a new allele for that
gene. This will in turn alter the information which that mutated allele now gives the cell. Mutations
usually produce recessive alleles (e.g. red-green colour blindness and haemophilia), but can also
give rise to dominant alleles.
Look and see what will happen if a gene mutation occurs and the second DNA base-triplet changes
from ACC to ACG.
As you can see in the example…the mutation (i.e. the
change) in the DNA strand caused the codon on mRNA
to change, as well as the resultant anti-codon on the
tRNA. The end result is that a different amino acid was
brought to the ribosome. One different amino acid in a
protein chain will alter the make-up of the entire protein.
This altered protein may be a “faulty” protein.
DNA is a stable molecule, but one or more nucleotides
can be lost or damaged:
- During DNA replication
- During transcription
- During crossing over during meiosis
- As a result of environmental factors (UV radiation,
viruses)
The effect of mutations on organisms
The effect of mutations depends on;
1. The type of mutation and the importance of the role of the affected section of DNA.
2. Whether the affected chromosome occurs in somatic cells or gametes.
Harmful mutations:
Most gene mutations have a harmful effect on an organism. Some of
these mutations do not result in the death of the organism, but prevent
the allele/gene from fulfilling its function.
A good example is Albinism. Albinism is a defect of melanin production
that results in little or no colour (pigment) in the skin, hair, and eyes.
Albinism is caused by a recessive allele that is carried on the
autosomes, therefore it is an autosomal disorder. Albinos are more
likely to develop skin cancer from exposure to the sun than people with
darker skins.
Some mutated alleles can cause disease or death of an organism. This occurs because the alleles
cannot code for the production of an important substance required by the organism during its
development or in adulthood. A harmful mutation has led to the genetic disorder known as
haemophilia.
Harmless mutations:
Mutations that change the physical features of an organism without negatively affecting the
organism’s bodily functions are often harmless mutations. Examples of harmless mutations;
- Mutations in non-coding DNA – so, therefore, don't impact protein synthesis
- Some mutations might be visible in the phenotype, but do not seriously impact the functioning
of the body (e.g. not being able to roll your tongue)
- A number of codons may code for one amino acid, so a mutation may have no effect if the
mutated codon still represents the same amino acid
Mutations that occur in somatic cells vs. gametes
If a mutation occurs in a somatic cell then this mutation will not be transmitted to the next
generation. This type of mutation, however, can lead to the development of cancer.
If a mutation changes the DNA/genetic material of the gametes, then this type of mutation is
inherited by the offspring.
Useful/beneficial mutations:
The environments in which organisms live change constantly. When gene/allele mutations occur
that benefit an organism’s ability to survive in this changing environment, they are considered as
useful mutations. These advantageous traits will allow organisms to survive and reproduce and
these beneficial alleles will be inherited by future generations.
Alleles for less advantageous traits will gradually disappear over time because the organisms
physically expressing this allele will be less suited to their environment and will therefore be less
likely to survive and reproduce. This evolutionary change is known as survival of the fittest due to
natural selection. This type of mutation can give rise to new species (if the organism’s genetic
make-up changes drastically over time).
**NB Mutations contribute to genetic variation!!!
What is Genetic engineering?
Genetic engineering is also known as genetic modification. It is the deliberate
manipulation or alteration of an organism’s genome (genetic make-up) using
biotechnology. It involves the addition or removal of DNA/genes to or from an
organism.
What is biotechnology?
It is the use of modern technological techniques to manipulate living organisms in
a way that gives us products from them that are useful to humans (in other words,
genetic engineering uses biotechnology to satisfy human needs).
Stem cells
What are stem cells?
.
Stem cells can be stimulated to differentiate into
specialised cells that are specifically adapted for a
particular function. They therefore provide replacement
cells for damaged or diseased cells.
