Insertion mutation

Insertion Mutation

An Insertion mutation is a type of mutation that occurs when one or more nucleotide pairs are inserted into the DNA sequence. This type of mutation can have significant effects on the genetic code, as it can cause a shift in the reading frame, leading to the production of an entirely different protein or a truncated, non-functional protein.

Types of Insertion Mutations

There are two main types of insertion mutations:

1. Tandem duplications: These occur when a sequence of nucleotides is duplicated and the duplicate sequence is inserted next to the original sequence.
2. Interspersed duplications: These occur when a sequence of nucleotides is duplicated and the duplicate sequence is inserted at a different location in the genome.

Effects of Insertion Mutations

The effects of insertion mutations can vary greatly depending on the location and size of the insertion. Small insertions within a gene can lead to a frameshift mutation, which can result in a completely different protein being produced. Larger insertions can result in the duplication of entire genes or even larger segments of the chromosome, which can lead to a variety of genetic disorders.

Examples of Diseases Caused by Insertion Mutations

Several genetic diseases are caused by insertion mutations. These include:

• Huntington's disease: This is caused by an insertion of multiple CAG repeats in the HTT gene.
• Fragile X syndrome: This is caused by an insertion of multiple CGG repeats in the FMR1 gene.
• Polydactyly: This can be caused by an insertion mutation in the Sonic hedgehog gene.

See Also

• Deletion mutation
• Point mutation
• Frameshift mutation
• Genetic disorder

References

Insertion mutation Resources
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