poistomutaatiot

Poistomutaatiot, also known as deletion mutations, are a type of genetic mutation where one or more nucleotides are removed from a DNA sequence. This can range from the loss of a single base pair to the deletion of a much larger segment of a chromosome. The impact of a poistomutaatio on an organism depends on its size and location. Small deletions, especially if they occur in non-coding regions of DNA or if they are in multiples of three bases (which would not cause a frameshift), might have no observable effect. However, deletions within coding regions can have significant consequences.

When a poistomutaatio occurs in a gene's coding sequence, it often leads to a frameshift mutation. This happens if the number of deleted nucleotides is not a multiple of three. A frameshift alters the reading frame of the genetic code, causing all subsequent codons to be misinterpreted. This typically results in a non-functional or significantly altered protein product. Such mutations can lead to various genetic disorders or diseases, depending on the specific gene affected and the severity of the protein dysfunction. For example, cystic fibrosis is caused by deletions in the CFTR gene. Larger chromosomal deletions can involve multiple genes and have more severe and widespread effects on an organism.