Insertion Mutation: Diseases & Examples Video

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  • 0:01 What Are Mutations?
  • 0:26 What Are Insertion Mutations?
  • 2:29 Diseases Caused by…
  • 3:47 Lesson Summary
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Lesson Transcript
Instructor: Angela Lynn Swafford

Lynn has a BS and MS in biology and has taught many college biology courses.

Insertion mutations occur when extra genetic material is added to a DNA sequence. Learn about insertion mutations and some of the diseases they can cause in this lesson.

What Are Mutations?

Any permanent change in a DNA sequence is called a mutation. DNA is found in all organisms and is the unit of heredity. This means that mutations can sometimes be passed on to offspring. Mutations can be beneficial, neutral (have no effect), or detrimental. While there are many different kinds of mutations, we will focus on just one type called an insertion mutation.

What Are Insertion Mutations?

Insertion mutations occur when extra nucleotides are put into a DNA sequence, making it longer than it should be. So, what are nucleotides? They are the repeating units of a DNA sequence. There are four nucleotides, and each has a different nitrogenous base:

  1. Thymine (T)
  2. Adenine (A)
  3. Guanine (G)
  4. Cytosine (C)

We write DNA sequences using strings of these four bases. Let's say a DNA sequence reads CAGC. If a T was accidentally inserted between the G and C when this sequence was being copied, it would now read CAGTC. An insertion mutation has occurred. If this mutation was in a gene, or the part of a DNA sequence that codes for a protein, it could be detrimental and result in the production of a nonfunctional protein.

Insertion mutations can be small, like in the CAGTC example in which only one nucleotide was inserted, or they can be large, with many nucleotides being added. If the number of bases inserted is not a multiple of three, then the insertion mutation is also considered a frameshift mutation. Frameshift mutations change all of the codons following the location of the DNA change, in this case an insertion. A codon is a 3-base sequence that codes for one amino acid. Amino acids are the building blocks of proteins, and changes in the sequence of amino acids can result in proteins that don't work properly.

Two examples of insertion mutations; one is a frameshift mutation, the other is not.
Insertion Mutation Examples

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