Frameshift
Frameshift mutation is a type of mutation that involves the insertion or deletion of a nucleotide in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein produced is. Frameshift mutations can lead to a premature stop codon, or a completely different amino acid sequence.
Causes[edit | edit source]
Frameshift mutations can be caused by the addition of one or more extra nucleotides, also known as an insertion mutation, or the removal of one or more nucleotides, known as a deletion mutation. These mutations can occur spontaneously during DNA replication or be induced by external factors such as exposure to ultraviolet light or certain chemicals.
Effects[edit | edit source]
The effects of frameshift mutations can be severe, leading to the production of a non-functional protein. This can result in a variety of genetic disorders, including Tay-Sachs disease, Cystic fibrosis, and Crohn's disease. In some cases, frameshift mutations can lead to the development of cancer.
Detection[edit | edit source]
Frameshift mutations can be detected using a variety of techniques, including DNA sequencing, polymerase chain reaction (PCR), and gel electrophoresis. These techniques can identify the presence of an insertion or deletion mutation and determine its location within the DNA sequence.
Treatment[edit | edit source]
There is currently no cure for genetic disorders caused by frameshift mutations. However, research is ongoing into potential treatments, including gene therapy and CRISPR-Cas9 gene editing.
See also[edit | edit source]
Frameshift Resources | |
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Contributors: Prab R. Tumpati, MD