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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

21.9K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.9K
RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Related Experiment Video

Updated: Oct 10, 2025

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative

Adam M Bournazos1, Lisa G Riley2, Shobhana Bommireddipalli3

  • 1Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|December 15, 2021
PubMed
Summary

Standardized polymerase chain reaction (PCR)-based RNA diagnostics accurately detect splicing errors in genetic disorders. This method aids genetic counseling and clinical care by reclassifying variants and enabling diagnoses in 64% of cases.

Keywords:
Genetic diagnosisNoncoding variantPre-mRNA splicingPutative splice variantVariant classification

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Area of Science:

  • Molecular Biology
  • Genetics
  • Diagnostic Medicine

Background:

  • Aberrant premessenger RNA splicing due to genetic variants is a growing cause of genetic disorders.
  • Accurate RNA diagnostics are crucial for identifying these variants and informing patient management.
  • Standardized protocols are needed for reliable RNA testing using accessible clinical specimens.

Purpose of the Study:

  • To develop and validate standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics.
  • To assess the utility of these diagnostics in identifying causal variants for genetic disorders.
  • To evaluate the impact of RNA diagnostics on genetic counseling and clinical decision-making.

Main Methods:

  • Developed standardized PCR-based RNA diagnostic protocols for blood, fibroblasts, urothelia, and biopsy specimens.
  • Triaged 74 families with diverse monogenic conditions into RNA testing, with RNA sequencing for 19 cases.
  • Utilized comparative RNA sequencing and PCR amplicons for variant phasing and splicing event interpretation.

Main Results:

  • Obtained informative RNA assay data for 96% of cases, enabling variant reclassification for 75%.
  • RNA diagnostics provided a genetic diagnosis for 64% of recruited cases.
  • Demonstrated high reproducibility of variant-associated mis-splicing and identified PCR amplicons as vital for clinical interpretation.

Conclusions:

  • Standardized PCR-based RNA diagnostics are effective in identifying splicing variants and diagnosing genetic disorders.
  • This approach offers advantages over RNA sequencing for phasing RNA splicing events and analyzing a broad range of genes.
  • The Australasian Consortium for RNA Diagnostics (SpliceACORD) provides clinically-endorsed protocols for RNA assay interpretation.