A mutation is a change that occurs in our DNA sequence, either
due to mistakes when the DNA is copied or as the result of
environmental factors such as UV light and cigarette smoke.
Mutation could result from DNA copying mistakes during cell division, exposure to ionizing radiation,
exposure to chemicals called mutagens, or infection by viruses. The majority of mutations have neither
negative nor positive effects on the organism in which they occur. These mutations are called neutral
mutations. While there is a mutation with positive effects, a mutation can develop resistance to some
diseases like atherosclerosis. These mutations are called beneficial mutations. Lastly, a harmful mutation
can cause genetic disorders and diseases such as cancer and cystic fibrosis.
Sudden and abrupt Changes in the genetic material, specifically within nucleic acids. Affects the dna, or
the genes or sometimes the chromosomes
Genetic mutations insertion, deletion, susbstitution (sequence of gene changes – leads to change in
protein sequence ) shift in reading frame
Chromosomal mutations – chromosomes are made up of highly organized DNA and proteins ; deletion,
translocation, inversion, duplication (disruption in chromosomal structure, chromosomal number)
chromosomal abberations – structure
Aneuploidy - Number - presence of an abnormal number of chromosomes in a cell (ex.trisomy 21 –
triplets set of chromosome in set 21 – total of 47 instead of 46) – which leads to down syndrome
Klinefelter syndrome – XXY in set 23 rescence of both masculine and feminine characteristics
In females – deletion of x chromosomes in set 23…one X (turner syndrome – 45 chromosome
Mutagens – factors causing alterations
Radiaton
Chemicals
Condsumable items
TYPES OF MUTATION
1. Duplication – extra copies of gense are generated
2. Inversion – or susbtsitution wrong bases match /when broken chromosomes gets inversed
3. Normal Sequence
4. Deletion – a base is removed / some of the genetic material breaks off
5. Insertion- an extra base is added in
Deletion Translocaton – when a fragment from one chromosomes breaks off and detaches to another
chromosome
Dna replication
Meiosis
Mutations can be inherited
Hemoglobin- prteins in the rbc that helps carries oxygen
Over a lifetime our DNA? can undergo changes or ‘mutations?’ in the
sequence of bases?, A, C, G and T.
This results in changes in the proteins? that are made. This can be a
bad or a good thing.
Mutations can occur during DNA replication? if errors are made and
not corrected in time.
Mutations can also occur as the result of exposure to
environmental factors such as smoking, sunlight and radiation.
Often cells can recognise any potentially mutation-causing damage
and repair it before it becomes a fixed mutation.
Mutations contribute to genetic variation within species.
Mutations can also be inherited, particularly if they have a positive effect.
For example, the disorder sickle cell anaemia? is caused by a
mutation in the gene? that instructs the building of a protein
called haemoglobin?. This causes the red blood cells? to become an
abnormal, rigid, sickle shape. However, in African populations, having
this mutation also protects against malaria?.
However, mutation can also disrupt normal gene activity and cause
diseases, like cancer?
Cancer is the most common human genetic disease; it is caused by
mutations occurring in a number of growth-controlling genes.
Sometimes faulty, cancer-causing genes can exist from birth, increasing
a person’s chance of getting cancer.
An illustration to show an example of a DNA mutation.
Image credit: Genome Research Limited
There are lots of different mutations that can occur in our DNA.
Small-scale mutations
Point mutation? – a change in one base? in the DNA? sequence.
Substitution – when one or more bases in the sequence is
replaced by the same number of bases (for example,
a cytosine? substituted for an adenine?).
Inversion – when a segment of a chromosome? is reversed end to
end.
Insertion – when a base is added to the sequence.
Deletion – when a base is deleted from the sequence.
Large-scale mutations
Mutations
Genetic
Alterations in dna’/ genes – shift in the reading frame – resulting in defective protein synthesis
Chromosomal –
Chromosomal aberrations – structure
Deletion, duplication, inversion, insertion, translocation
Aneuploidy abnormal number of chromosomes changes in autosomes and sex chromosomes
In other cases, mutations alter the way a gene is read through either the insertion or the deletion of a single base. In these
so-called frameshift mutations, entire proteins are altered as a result of the deletion or insertion. This occurs because
nucleotides are read by ribosomes in groups of three, called codons. Thus, if the number of bases removed or inserted from
a gene is not a multiple of three, the reading frame for the rest of the protein is thrown off. To better understand this concept,
consider the following sentence composed entirely of three-letter words, which provides an analogy for a series of three-
letter codons:
THE BIG BAD FLY HAD ONE RED EYE AND ONE BLU EYE.
Now, say that a mutation eliminates the first G. As a result, the rest of the sentence is read incorrectly:
THE BIB ADF LYH ADO NER EDE YEA NDO NEB LUE YE.
The same will happen in a protein. For example, a protein might have the following coding sequence:
AUG AAA CUU CGC AGG AUG AUG AUG
A codon translation table (Figure 4) can be used to determine that this mRNA sequence would encode the following stretch
of protein:
Met-Lys-Leu-Arg-Arg-Met-Met-Met
Now, suppose that a mutation removes the fourth nucleotide. The resulting code, separated into triplet codons, would read
as follows:
AUG AAC UUC GCA GGA UGA UGA UG
This would encode the following stretch of protein:
Met-Asn-Phe-Ala-Gly-STOP-STOP
