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🧬 GENETIC AND CHROMOSOMAL MUTATIONS –

FULL NOTES

1. 🔹 What is a Mutation?

A mutation is a permanent change in the DNA sequence of an organism. It can affect how
genes function and how proteins are made. Mutations can be:

Beneficial – Rare, but may lead to improved traits (e.g., resistance to disease).

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Neutral – No effect on the organism.

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Harmful – May cause diseases or disorders.

Mutations occur spontaneously or can be caused by mutagens (explained later).

2. 📘 1. Genetic Mutations (Gene Mutations)

These mutations occur in a single gene, affecting the sequence of DNA bases (A, T, C, G)
that make up that gene.

1. 🧪 Types of Genetic Mutations:

1. 1. Point Mutation

Change in one nucleotide/base pair.

Substitution – One base replaces another.

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Silent mutation – No change in the amino acid.

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Missense mutation – Changes one amino acid in the protein.

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Nonsense mutation – Changes a codon to a STOP codon, ending the protein

early.

2. 2. Insertion

One or more extra bases are added to the DNA.

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May cause a frameshift if not a multiple of 3, changing how the codons are read.

3. 3. Deletion

One or more bases are removed.

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Can also cause a frameshift mutation, severely altering the protein.

4. 4. Frameshift Mutation

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 Occurs when insertion or deletion alters the reading frame of the gene.

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Often leads to completely non-functional proteins.

2. 📌 Example of Genetic Mutation:

Sickle Cell Anaemia: Caused by a point mutation in the haemoglobin gene (GAG →
GTG), leading to misshaped red blood cells.

3. 📗 2. Chromosomal Mutations

These involve larger segments of DNA or even whole chromosomes.

1. 🧬 A. Structural Chromosomal Mutations

These change the structure of chromosomes:

1.

Deletion – A section of the chromosome is lost.

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Duplication – A section is copied and appears twice.

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Inversion – A segment of a chromosome is reversed.

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 Translocation – A section from one chromosome breaks off and attaches to a
different chromosome.

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2. 🧬 B. Numerical Chromosomal Mutations

These involve changes in the number of chromosomes due to errors in cell division
(meiosis), known as non-disjunction.

1. Types:

1.

Monosomy – A chromosome is missing (2n - 1).

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Example: Turner syndrome (XO) – Missing one X chromosome in females.

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Trisomy – One extra chromosome (2n + 1).

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Example: Down syndrome (Trisomy 21) – Extra chromosome 21.

4. 🧠 Comparison Table
Feature Genetic Mutation Chromosomal Mutation

Whole chromosome or large

Affects Single gene
segments

Size of Small Large

 Feature Genetic Mutation Chromosomal Mutation

change

Examples Sickle cell anaemia Down syndrome, Turner syndrome

Errors in DNA Errors in meiosis or chromosome

Caused by
replication breakage

5. ⚠️Factors That Increase Mutation Rate

(Mutagens)
1. 1. Physical Mutagens

X-rays, UV light, gamma rays – Cause DNA breaks or distortions.

2. 2. Chemical Mutagens

Cigarette smoke, pesticides, preservatives – Interfere with DNA base pairing or

copying.

3. 3. Biological Agents

Viruses (e.g., HPV) – Insert their genes into DNA.

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Bacteria – Some produce toxins that mutate DNA.

4. 4. Spontaneous Causes

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 Errors in DNA replication

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Aging cells or natural chemical reactions in the body.

6. ✏️Summary

Genetic mutations affect single genes; include point mutations, insertions, deletions,
and frameshifts.

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Chromosomal mutations affect large DNA segments or whole chromosomes;

include structural changes (deletion, duplication, inversion, translocation) and
numerical changes (monosomy, trisomy).

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Mutations can occur naturally or be caused by mutagens like radiation, chemicals,

and viruses.

7. 🔬 1. Physical Mutagens (Radiation)

These are types of radiation that physically damage DNA.

1. a. Ultraviolet (UV) Light

Found in sunlight.

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 Causes thymine dimers (two thymine bases bond abnormally), which distort the
DNA structure.

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Can lead to skin cancer.

2. b. X-rays and Gamma Rays

High-energy radiation penetrates cells deeply.

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Can break DNA strands or cause rearrangements in chromosomes.

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Used in medical imaging and cancer treatment, but harmful in high doses.

8. 🧪 2. Chemical Mutagens

Chemicals that interact with DNA and cause mutations. Common sources include pollution,
drugs, or food additives.

1. a. Cigarette Smoke

Contains benzene, formaldehyde, and other carcinogens.

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Can cause substitution mutations that lead to cancers (e.g. lung cancer).

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 2. b. Pesticides and Herbicides

May interfere with DNA replication and repair.

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Long-term exposure increases cancer risk.

3. c. Processed Food Additives

Some artificial preservatives and dyes may act as mild mutagens.

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Effects are still being researched.

4. d. Alkylating Agents

Add alkyl groups (e.g., methyl or ethyl) to DNA bases.

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Interfere with base pairing and cause point mutations.

9. 🧫 3. Biological Agents

Living organisms or viruses that alter DNA.

1. a. Viruses (e.g., HPV, HIV)

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 Can insert their genetic material into host DNA.

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May cause cells to divide uncontrollably (e.g., cervical cancer from HPV).

2. b. Transposons ("Jumping Genes")

DNA sequences that can move from one location to another in the genome.

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Can disrupt gene function when inserted into coding regions.

3. c. Bacterial Toxins

Some bacteria produce substances that damage DNA or interfere with replication.

10. ⚙️4. Spontaneous Mutations

These occur naturally due to internal cellular processes.

1. Causes:

DNA replication errors – Sometimes, the enzymes that copy DNA make mistakes.

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Spontaneous chemical changes – E.g., cytosine can turn into uracil by deamination.

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Oxidative stress – Free radicals from metabolism can damage DNA bases.

Even though cells have repair mechanisms, not all mistakes are corrected, which leads to
spontaneous mutations.

11. 📌 Summary Table

Factor
Example How it Increases Mutation Rate
Type

Physical UV rays, X-rays Break DNA, distort structure

Tobacco smoke,
Chemical Modify DNA bases, disrupt replication
pesticides

Viruses (HPV), Insert foreign DNA or disrupt gene

Biological
transposons sequences

Spontaneo Natural copying mistakes or base

DNA replication errors
us alterations

12. 🚨 Why Mutation Rate Matters

High mutation rates can lead to:

Cancer

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Genetic disorders

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 Cell death

Controlled mutations are useful in:

Genetic engineering

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Evolution and natural selection