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Molecular Basis of Mutation

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Introduction to Mutations

MVSAT 2024

Mutations are changes in the DNA sequence of an organism. They may be caused by external factors, such as radiation or chemicals, or they may occur spontaneously due to errors in replication. Mutations can have both positive and negative effects on organisms; some mutations cause severe birth defects while others provide benefits that give an individual a competitive advantage. We will discuss the molecular basis for mutation and how it works.


Mutations can be caused by a number of different factors. Radiation, chemicals, and replication errors all can cause mutations. External factors like radiation and chemicals are called mutagens. They cause changes in the DNA sequence by damaging the DNA molecule. Replication errors are mistakes that occur during replication of the DNA molecule. Mutations can also arise spontaneously without any external influence. This type of mutation is called a spontaneous mutation.


Importance of Mutations:

Mutations in microorganisms can be very important for understanding how they work. The evolution of antibiotic resistance in "E. coli" is an example of this. Antibiotics kill cells by targeting specific parts of the cell like enzymes or DNA, which causes them to stop functioning normally and eventually leads to death (Figure below). Mutations that make bacteria resistant to antibiotics occur when changes in the genetic sequence alter these targets away from key molecules so that the drugs cannot bind tightly enough to kill the bacterium.


Here are Some Best Ways to Study Mutations:

1) Learn the basics - It is important to have a basic understanding of what mutations are and how they work before studying them further. This will give you a foundation to build on.

2) Use model organisms - Mutations can be studied in a variety of different ways, but the best way to study them is by using model organisms. Model organisms are genetically simple and easy to work with so they are ideal for studying mutations.

3) Use mutations to study disease - Mutations can also be used in the lab to model diseases that are caused by genetic changes. A good example of this is cancer research where scientists use mutated cells or genes to test new drugs and treatments on human cells.

4) Use bioinformatics - Bioinformatics is a branch of science that uses computers to analyse and interpret biological data. This is a great way to study mutations because it allows scientists to look at the entire genetic sequence of an organism and identify changes in the DNA.

5) Usage - Mutations are extremely important for understanding how organisms work. They can be used to model disease, create new experimental models of cells, and much more.

6) Use of technology - Technology is advancing rapidly and it can be used to benefit mutation research. For example, CRISPR technology allows scientists to make very specific changes in the DNA sequence of an organism which has opened up many possibilities for studying mutation.

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FAQs on Molecular Basis of Mutation

1. Define Mutation?

Mutation is a process under which there is a change in the structure of genes which results in various abnormalities in our body. And the agents which cause mutation are known as mutants. There are both external and internal factors which lead to mutation.

2. How many types of mutation are there based on causing factors?

Based on factor Mutation is of two types:

  1. Induced Mutation: Mutation which occurs due external factors are called induced mutation. External factors are harmful UV-rays, direct sunlight, etc.

  2. Spontaneous Mutation: Mutation which occurs by mistake is known as spontaneous  mutation.

3. Explain different types of Mutation?

Different types of mutation are:

  • Silent Mutation

A change or variations within the sequence of nucleotide bases which constitutes DNA, without a subsequent change in the amino acids or the function of the overall protein.

  • Nonsense Mutation

A nonsense mutation occurs when there is a change in the sequence of nucleotides and holds the normal sequence of amino acids in the final protein.

  • Missense Mutation

It is a type of point mutation, where two different amino acids are placed within the produced protein, other than its original.

4. What are the causes of Mutation?

Cause of mutation can be of two types either internal or external. Internal causes include sudden change in base pair due to abnormal internal activities of the body,all these mutations lead to evolution and external causes include factors like UV-rays which lead to change in DNA sequence.

5. What is Frameshift Mutation?

Under this type of mutation there is an addition or loss of DNA bases that changes a gene reading frame. A reading frame consists of groups of 3 bases that each code for one amino acid.

6. What are the ways/methods to find out the mutations?

There are multiple different methods that scientists use to study mutation, including: looking at how chemical mutagens affect cells or organisms, using model organisms like "E. coli", and studying life history traits of individuals with a particular genetic change. Each method has its own advantages and disadvantages so it is important for researchers to choose which one works best depending on what they want to accomplish.

7. How many types of mutations are there?

There are many different types of mutations, but they can be generally classified as either: 

Point Mutations- These are changes in a single nucleotide base sequence Missense Mutation- This is a point mutation that results in a change in the amino acid sequence at the site of the mutation Nonsense Mutation- This is a point mutation that causes premature stop codons and leads to truncated proteins Frame Shift Mutation- This is a point mutation where the number of nucleotides between two consecutive codons is changed Silent Mutation-This is a point mutation where the DNA sequence remains unchanged but the resulting protein molecule is altered Splice Site Mutations-These are mutations that occur in the splice junction sites of introns and can lead to the production of abnormal proteins


Deletion Mutation- This is a point mutation where one or more nucleotides are deleted from the DNA sequence Insertion Mutation-This is a point mutation where one or more nucleotides are inserted into the DNA sequence

8. How common are mutations?

Mutations are extremely common and occur in all organisms. In fact, every time a cell divides there is a chance that it will mutate. This high rate of mutation helps to explain why genetic changes can be so prevalent in populations over long periods of time.

9. What are some disadvantages/negative effects of mutations?

There can be many different negative effects of mutations, depending on the type of mutation that occurs. Some common examples include: death of the organism, changes in body morphology, reduced fitness or reproductive ability, and disease. Many times mutations can also lead to genetic disorders which can be passed down to future generations.

10. What are some advantages/positive effects of mutations?

There are also many different positive effects of mutations, again depending on the type of mutation that occurs. Some common examples include: evolution of new traits or characteristics in populations, increased resistance to environmental stressors, and adaptive changes in response to changing conditions. In some cases mutations can even lead to the development of new species.


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