tandemduplicaatioita

Tandem duplications are a type of genetic mutation that involves the duplication of a segment of DNA within a gene. This occurs when a segment of DNA, often ranging from 10 to 100 kilobases, is duplicated and becomes adjacent or tandem to its original copy. Tandem duplications can occur anywhere in the genome, but are most commonly found in highly replicating regions such as genes and intergenic regions.

The duplications are thought to occur due to errors during DNA replication or recombination. This results in a stretch of DNA being copied twice, often resulting in a gene or region with increased copies. Tandem duplications can involve different types of DNA sequences, including genes, exons, and introns.

Tandem duplications can have a significant impact on gene function and protein production. The duplicated genes can behave independently or in a manner similar to the original gene. In some cases, the duplicated gene may acquire new gene expression patterns or changes in expression levels. Tandem duplications have also been associated with several human diseases, including developmental disorders, cancer, and muscle diseases.

The presence of tandem duplications can be detected through various molecular cytogenetic and molecular genetic techniques, such as fluorescent in situ hybridization (FISH) and quantitative PCR. The identification and characterization of tandem duplications can provide insights into the genetic and molecular mechanisms underlying certain diseases and developmental disorders.

Tandem duplications have also been explored as targets for gene therapy. By deleting the duplicated segment and restoring the correct gene expression, researchers may be able to reduce or eliminate the symptoms associated with the disease.