Duplication
Duplication is a term used in genetics to describe a phenomenon where a region of DNA is duplicated, resulting in multiple copies of the same gene or sequence. This can occur as a result of various mutations and can lead to a variety of genetic disorders.
Causes
Duplication can occur as a result of several different mechanisms. These include:
- Unequal crossing over: This occurs during meiosis when the homologous chromosomes do not align perfectly, leading to one chromosome gaining a segment of DNA and the other losing it.
 - Replication slippage: This occurs during DNA replication when the DNA polymerase slips and replicates a segment of DNA more than once.
 - Transposable element: These are segments of DNA that can move around the genome and cause duplication if they insert into a gene or other functional region of DNA.
 
Effects
The effects of duplication can vary widely depending on the specific genes involved and the extent of the duplication. Some possible effects include:
- Gene dosage effects: If a gene is duplicated, it can lead to an overproduction of the protein it codes for, which can disrupt normal cellular function.
 - Phenotypic variation: Duplications can contribute to phenotypic variation and evolution by providing extra genetic material that can mutate and evolve new functions.
 - Genetic disorders: Some genetic disorders are caused by duplications of specific genes or regions of DNA. For example, Charcot-Marie-Tooth disease is caused by a duplication of the PMP22 gene.
 
See also
References
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Contributors: Prab R. Tumpati, MD