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DNA Mutation A Journey Into The Diversity of Genetic Changes

DNA

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preetishekhawat0311
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16 views10 pages

DNA Mutation A Journey Into The Diversity of Genetic Changes

DNA

Uploaded by

preetishekhawat0311
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
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DNA Mutation: A

Journey into the


Diversity of Genetic
Changes
Welcome to this exploration of DNA mutations, the fascinating and often
complex changes that occur in our genetic code. From subtle variations
to dramatic rearrangements, these mutations drive evolution, contribute
to disease, and shape the incredible diversity of life on Earth. Join us as
we delve into the world of DNA mutations, exploring their causes,
consequences, and implications for human health and the future of our
species.

PS by preeti singh
Introduction to DNA and Genetic Information
DNA, the blueprint of life, is a double-stranded helix composed of nucleotides: adenine (A), guanine (G), cytosine (C), and
thymine (T). These nucleotides form base pairs (A-T, G-C) that hold the two strands together. The sequence of these base
pairs encodes genetic information, dictating everything from our physical traits to our susceptibility to diseases.

Genes Chromosomes Genome


Segments of DNA that provide Structures within the nucleus of a The complete set of genetic
instructions for building and cell that contain tightly coiled DNA. instructions within an organism. It
maintaining our bodies. They carry Humans have 23 pairs of encompasses all the DNA found in
the code for specific proteins, chromosomes, one set inherited an organism's chromosomes.
which perform a wide range of from each parent.
functions.
Causes of DNA Mutation: Replication Errors,
Environmental Factors, and Genetic Instability
DNA mutations arise from various sources. During DNA replication, the process of creating a copy of DNA, errors can occur,
leading to changes in the nucleotide sequence. Environmental factors, such as exposure to radiation, certain chemicals, and
viruses, can also damage DNA and induce mutations.

1 Replication Errors 2 Environmental Factors 3 Genetic Instability


Mistakes in DNA copying during Exposure to mutagens like Some individuals inherit genetic
cell division can introduce radiation or certain chemicals predispositions for increased
mutations. These errors are can damage DNA and cause mutation rates. These mutations
usually corrected by mutations. These mutagens can can arise from defects in DNA
proofreading mechanisms, but alter the chemical structure of repair pathways, making them
some may slip through the DNA, interfering with its normal more vulnerable to DNA damage.
cracks. function.
Spontaneous and Induced Mutations
Mutations can be categorized as spontaneous or induced. Spontaneous mutations occur naturally during DNA replication,
while induced mutations arise from exposure to mutagens. Both types can lead to significant changes in the genome.

Spontaneous Mutations Induced Mutations

These mutations arise randomly during normal biological These mutations are caused by exposure to mutagens, such
processes, mainly due to errors in DNA replication. They are as radiation, certain chemicals, and some viruses. Mutagens
typically rare but play a crucial role in evolution. can damage DNA directly, leading to changes in the
nucleotide sequence.
Point Mutations: Substitutions, Insertions, and
Deletions
Point mutations involve changes in a single nucleotide within a DNA sequence. They can be substitutions, insertions, or
deletions. These mutations can have significant consequences, depending on the location and type of change.

Type Description

Substitution One nucleotide is replaced by a different nucleotide.

Insertion An extra nucleotide is added to the DNA sequence.

Deletion A nucleotide is removed from the DNA sequence.


Sense, Missense, and Stop Mutations
Point mutations can affect the amino acid sequence of a protein, depending on the location of the change. Sense mutations
do not alter the amino acid sequence, while missense mutations result in a different amino acid being incorporated. Stop
mutations introduce a premature stop codon, leading to a truncated protein.

Sense Mutations Missense Mutations Stop Mutations


These mutations do not alter the amino These mutations result in a different These mutations introduce a premature
acid sequence of a protein. They are amino acid being incorporated into the stop codon, leading to the termination
usually silent and have no noticeable protein sequence. The impact can vary of protein synthesis. The resulting
effect on the organism. depending on the location and nature protein may be truncated and non-
of the amino acid change. functional.
Frameshift Mutations:
Insertions and Deletions
Frameshift mutations occur when insertions or deletions alter the reading
frame of the DNA sequence. This shift in the reading frame can lead to a
drastically different protein, often non-functional.

Normal Reading Frame


The DNA sequence is read in groups of three nucleotides,
1
called codons. Each codon specifies a particular amino
acid.

Frameshift Mutation
An insertion or deletion alters the reading frame, shifting
2
the grouping of codons. This results in a completely
different amino acid sequence.
Repeat Expansions: Trinucleotide Repeat
Disorders
Repeat expansions are a type of mutation where a short sequence of nucleotides is repeated multiple times. In trinucleotide
repeat disorders, an expansion of a three-nucleotide repeat leads to disease. These disorders are often characterized by
neurodegenerative symptoms, such as Huntington's disease and Fragile X syndrome.

Normal Repeat 1
A specific trinucleotide sequence is repeated a
certain number of times in the DNA sequence.
2 Expansion
The number of repeats increases significantly,
often exceeding a threshold that triggers disease.
Disease Manifestation 3
The expanded repeat can disrupt gene function,
leading to the development of neurodegenerative
symptoms.
Chromosomal Mutations: Deletions, Duplications,
and Inversions
Chromosomal mutations involve changes in the structure of a chromosome. These mutations can be large-scale and often
have significant consequences. Deletions involve the loss of a segment of a chromosome, while duplications result in an extra
copy of a segment. Inversions occur when a segment of a chromosome is flipped.

Deletions Duplications Inversions


A segment of a chromosome is A segment of a chromosome is A segment of a chromosome is flipped,
removed, potentially leading to the loss duplicated, potentially leading to an potentially affecting gene regulation or
of important genes. increase in gene dosage. protein production.
Chromosomal Aberration:
Aneuploidy and Polyploidy
Chromosomal aberrations refer to any changes in the number or
structure of chromosomes. Aneuploidy occurs when an individual has an
abnormal number of chromosomes, such as trisomy 21 (Down
syndrome), while polyploidy involves having more than two sets of
chromosomes. These aberrations can have significant consequences for
development and health.

1 Aneuploidy 2 Polyploidy
The presence of an The presence of more than
abnormal number of two sets of chromosomes in
chromosomes in a cell. It a cell. It is common in plants
can arise from errors in cell but rare in animals.
division, leading to Polyploidy can lead to
developmental disorders increased cell size and
and health problems. vigor.

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