indelsmuutokset

Indelsmuutokset, also known as indel mutations, are a type of genetic mutation that involves the insertion or deletion of one or more nucleotide bases within a DNA sequence. These changes can occur anywhere in the genome, including coding regions, regulatory elements, or non-coding DNA. The size of an indel can range from a single base pair to thousands of base pairs.

When indel mutations occur within a gene, they can have a significant impact on the resulting protein. If the indel is not a multiple of three base pairs, it can cause a frameshift mutation. This means that the reading frame of the genetic code is altered, leading to a completely different sequence of amino acids downstream of the mutation. Frameshift mutations often result in a non-functional protein or a truncated protein, depending on where the mutation occurs and how it affects downstream codons. Even if the indel is a multiple of three, it will still alter the amino acid sequence by adding or removing specific amino acids, which can also affect protein function.

The consequences of indel mutations can vary widely. Some indels may have no observable effect on an organism, especially if they occur in non-coding regions or do not alter protein function significantly. However, other indels can be detrimental, leading to genetic disorders, diseases, or developmental abnormalities. For example, certain inherited diseases like cystic fibrosis and Huntington's disease are caused by indel mutations. Conversely, some indels can be neutral or even beneficial, contributing to genetic diversity and potentially conferring an evolutionary advantage. Researchers study indels using various molecular techniques and bioinformatics tools to understand their role in gene function, evolution, and disease.