kópiaszámváltozások

Kópiaszámváltozások, often referred to as copy number variations (CNVs), represent a type of genetic alteration in which a segment of DNA is present in an abnormal number of copies. This can involve either a deletion (loss of one or more copies) or a duplication (gain of one or more copies) of a DNA sequence. CNVs are distinct from single nucleotide polymorphisms (SNPs), which involve changes at a single base pair.

These variations can occur anywhere in the genome, affecting genes, intergenic regions, or regulatory elements. The size of CNVs can range from a few base pairs to entire chromosomes. They are a significant source of genetic diversity in humans and other organisms, and their presence can have a wide range of effects, from being completely benign to contributing to disease.

CNVs are implicated in numerous complex human diseases, including neurodevelopmental disorders like autism spectrum disorder and intellectual disability, as well as various types of cancer. In cancer, CNVs can lead to the activation of oncogenes or the inactivation of tumor suppressor genes, driving tumor growth and progression.

The study of CNVs is crucial for understanding genetic predisposition to disease, identifying potential therapeutic targets, and advancing personalized medicine. Advances in technologies such as comparative genomic hybridization (CGH) and next-generation sequencing have greatly improved the ability to detect and characterize CNVs.