duplicasyon

Duplicasyon is a term used to describe the creation of an identical copy of something, or the state of having an extra copy. In biology and genetics, duplicasyon refers specifically to a genetic mutation in which a segment of DNA is copied one or more times, resulting in additional copies of that region within the genome. Such duplications can involve single genes or larger chromosomal segments and are a major source of genetic variation.

In genetic terms, duplicasyon contributes to copy number variation among individuals. Duplications can be classified as tandem, where the copies are adjacent, or interspersed, where copies appear at different locations in the genome. They may be inherited from a parent or arise de novo during meiosis or mitosis. Mechanisms that generate duplications include unequal crossing over during recombination, replication errors such as slippage, and the activity of transposable elements.

The consequences of duplicasyon are diverse. Increased gene dosage can alter cellular processes and lead to disease if the affected genes are dosage-sensitive. Conversely, duplications can provide raw material for evolution, allowing duplicated genes to diverge and acquire new or specialized functions (neofunctionalization or subfunctionalization). In humans, certain duplications are associated with disorders (for example, PMP22 gene duplication in Charcot–Marie–Tooth disease) while others may contribute to normal variation or adaptation.

Detection of duplications employs genomic technologies such as array comparative genomic hybridization, copy-number variant analysis from sequencing data, and targeted assays. Understanding duplicasyon helps explain genetic diversity, evolution, and the molecular basis of various diseases.