Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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Pseudogenes: Nuances and Nuisances in Molecular Diagnostics

  • Oh, Seung Hwan (Department of Laboratory Medicine, Pusan National University Yangsan Hospital)
  • Received : 2022.10.04
  • Accepted : 2022.10.13
  • Published : 2022.10.31
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Abstract

Pseudogenes are genomic regions that contain gene-like sequences that have a high similarity to the known genes but are nonfunctional. They are categorized into processed, unprocessed, and unitary pseudogenes. Unprocessed pseudogenes generated by duplications can be problematic in sequencing approaches in molecular diagnostics. We discuss the risk of misdiagnosis when investigating genes with pseudogenes of high homology, and describe a method for identifying these small and annoying differences between parent genes and pseudogenes, including parent gene-specific assay design.

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References

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