Singelnukleotidvariationer

Singelnukleotidvariationer, often abbreviated as SNVs, represent the most common type of genetic variation in humans. They occur when a single nucleotide base (adenine, guanine, cytosine, or thymine) in the DNA sequence is altered. These alterations can arise spontaneously during DNA replication or be inherited from parents. While many SNVs have no observable effect on an individual's health or traits, some can lead to significant consequences.

The impact of an SNV depends on its location within the genome and the specific change it causes. If an SNV occurs within a gene that codes for a protein, it can alter the amino acid sequence of that protein, potentially affecting its function. This can lead to a wide range of phenotypes, from subtle changes to severe diseases. SNVs outside of coding regions can also have effects by influencing gene regulation, such as altering how much of a protein is produced or when it is produced.

The study of SNVs is crucial in various fields of biology and medicine. In genetics research, SNVs are used as markers to understand human evolution, population structure, and the inheritance patterns of traits. In clinical genetics, identifying disease-causing SNVs is essential for diagnosing genetic disorders, assessing an individual's risk for certain conditions, and developing targeted therapies. Advances in DNA sequencing technology have made it possible to identify SNVs efficiently, paving the way for personalized medicine and a deeper understanding of the genetic basis of human diversity and disease.