Mutation
Lec 9-10
Al-Turath University / Medical Laboratory Techniques
Dr. Sally Imad Hussian Genetics
Mutation
Introduction:
➢ Sudden change in genetic material or character of an
organism is known as mutation.
➢ Individuals showing these changes are known as mutants.
➢ A mutation occurs when a DNA gene is changed or damaged
in such a way as to alter the genetic message carried by that
gene.
➢ An individual showing an altered phenotype due to
mutation are known as variant.
➢ Factor or agents causing mutation are known as mutagens.
➢ A mutagen is an agent of substance that can bring about a
permanent alteration to the physical composition of a
DNA gene such that the genetic message is changed.
➢ Mutation which causes change in base sequence of a gene
are known as gene mutation or point mutation
➢ Gene mutations have the exclusive effect of adding to the
number of alleles available at a locus, and so increasing the
gene pool.
➢ The gene mutations are the only source of new genetic
variability, and without them evolution could not progress for
a long time.
➢ Mutant gene do not become expressed immediately
because most of them are recessive.
History
➢ Seth Wright recorded case of mutation first time in 1791
in male lamb with unusual short legs.
➢ 1901- Hugo deVries first used the term mutation to describe
the sudden heritable phenotypic change in evening primrose
Oenothera lamarckiana.
➢ Systematic study of mutation was started in 1910 when
Morgan genetically analyzed white eye mutant of Drosophila.
➢ H . J. Muller induced mutation in Drosophila by using X-
rays in 1927; he was awarded with Nobel prize in 1946.
Spontaneous Mutation
• Spontaneous mutation occur frequently in nature without any
cause.
• During the study heredity since1900, Spontaneous
mutation have been recognized in a large number of
organisms.
• Various species of Drosophila have contributed the greatest
number of gene mutations. Hundreds of normal genes and
their mutant alleles are known in these flies.
• The known gene mutations in Drosophila are those causing
white eyes, pink eyes, black body colour, yellow body colour
and vestigial wings.
• Similarly in human, many characters as hair colour, eyes
colour, skin pigmentation and several body deformities are
due to mutant gene.
Induced Mutations
• Induced mutations are alterations in the gene after it has come
in contact with mutagens and environmental causes.
• Induced mutations artificially through the use of radiations,
chemicals and other agent.
• It has been shown that the mutation rate can be raised well
above the spontaneous’ rate by various experimental
procedures.
• Temperature shocks were one of the first methods used to raise
the mutation rate.
• In Drosophila, short exposures to both low and high
temperature extremes outside the normal range result in higher
rate of mutation.
• X-rays and other ionizing radiations (alpha, beta and gamma
rays) induce mutations and cause chromosomal breakage.
At present, X-rays are considered to be the most effective
physical mutagens.
• Several chemicals are also strongly mutagenic. The chemicals
like formaldehyde and urethane when mixed with food on
which Drosophila larvae grow cause mutations.
Types of Mutation
• Chromosomal Mutation
i) Deletion
ii) Duplication
iii) Inversion
iv) Translocation
v) Nondisjunction
• Gene Mutation
i) Point Mutation
Silent
Missense
Nonsense
ii) Frameshift Mutation
Insertion
Deletion
Chromosome Mutation
•A chromosome mutation is missing extra or irregular
portion of a chromosomal DNA. It can be from an
atypical number of chromosomes or a structural
abnormality in one or more chromosomes.
Types of Chromosome Mutation
Deletion:
• Deletion occurs when nucleotides are left out of a gene.
• They also usually cause a shift in reading frame that will
ultimately truncate the protein.
• Deletions can be caused by errors in chromosomal crossover
during meiosis, which causes several serious
Duplication:
• A portion of the chromosome is duplicated, resulting in extra
genetic material
• Duplications arise from an event termed unequal crossing-over
that occurs during meiosis between misaligned homologous
Inversion:
• A portion of the chromosome has broken off, turned upside
down, and reattached, therefore, the genetic material is
inverted.
Translocation :
• Chromosome translocation is caused by rearrangement of
parts between non homologous chromosome.
Nondisjunction:
• Failure of chromosome to separate during meiosis
• Causes gamete to have too many or too few chromosomes
• Disorder:
- Down syndrome
- Turner syndrome
- Klinefelter’s syndrome
Gene Mutation
•A gene mutation is a permanent alteration in the DNA
sequence that makes up a gene, such that the
sequence differ from what is found in most people.
• Mutation range in size; they can affect anywhere from
a single DNA building block (base pair) to a large
segment of a chromosome that include multiple
genes.
Types of Gene Mutation
Point mutation:
• Point mutation are the most common type of gene
mutation. Also called a base-pair substitution, this type of
mutation changes a single nucleotide base pair. Point
mutation can be categorized into three types:
i) Missense Mutation:
Change in nucleotide sequence brings different types of
protein.
ii) Silent Mutation:
Change in nucleotide sequence brings no change in protein
type. It is due to degeneracy of genetic.
iii) Non- Sense Mutation:
Change in nucleotide sequence brings non-sense codon
(UAA, UAG, UGA) at a new position in the mRNA as
a result, protein synthesis adversely stops.
Frameshift Mutation:
• Mutation caused by the addition or deletion of a base
pair or base pairs in the DNA of a gene resulting in
the translation of the genetic code in an unnatural
reading frame from the position of the mutation to the
end of the gene.
• alsocalled frameshift mutations because they shift the
“reading frame” of the genetic message.
Frameshift mutations can change every amino acid that
follows the point of the mutation and can alter a protein so
much that it is unable to perform its normal functions
Causes of mutation
• Acquired mutations occur at sometime during a person’s life
and are present only in certain cells, not in every cell in the
body. These changes can be caused by environmental
factors such as ultraviolet radiation from the sun, or can
occur if an error is made as DNA copies itself during cell
division.
• Mutations can also be caused by exposure to specific
chemicals or radiation. These agents cause the DNA to
break down. So the cell would end up with DNA slightly
different than the original DNA and hence, a mutation.
The cause of mutations
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