kopioitumisvirhe

Kopioitumisvirhe, or copy number variation (CNV), refers to a type of genetic variation where a segment of DNA is duplicated or deleted. These variations can range in size from a few base pairs to large chromosomal regions. Unlike single nucleotide polymorphisms (SNPs) which involve changes in a single DNA building block, CNVs alter the number of copies of a particular DNA sequence.

CNVs are a significant source of genetic diversity in humans and other organisms. They can arise through various mechanisms during DNA replication or repair processes, such as non-allelic homologous recombination. These events can lead to either an increase (duplication) or a decrease (deletion) in the number of copies of specific genes or regulatory elements.

The impact of CNVs on an organism's phenotype can be highly variable. Some CNVs have no observable effect, while others can contribute to disease susceptibility or the development of complex traits. For instance, certain CNVs have been linked to neurodevelopmental disorders, developmental delays, and an increased risk for certain types of cancer. The functional consequence often depends on the specific genes or regulatory regions affected and whether the change leads to a gain or loss of gene dosage. Identifying and characterizing CNVs is an important area of genetic research, aiding in understanding disease mechanisms and developing personalized medicine approaches.