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Updated: Sep 22, 2025

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Published on: June 3, 2019

Prion protein gene mutation detection using long-read Nanopore sequencing.

François Kroll¹, Athanasios Dimitriadis¹, Tracy Campbell¹

¹MRC Prion Unit at University College London (UCL), UCL Institute of Prion Diseases, UCL, London, W1W 7FF, UK.

Scientific Reports

|May 18, 2022

Summary

This summary is machine-generated.

Full gene sequencing using Nanopore technology accurately detects prion gene (PRNP) variants for diagnosing prion diseases. This method enhances surveillance and diagnosis, revealing new non-coding variants and informing future research on somatic mutations.

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Area of Science:

Neurogenetics
Molecular Biology
Genomics

Background:

Prion diseases are fatal neurodegenerative disorders affecting humans and animals.
Accurate prion gene (PRNP) sequencing is crucial for diagnosis and surveillance.
Current methods focus on limited PRNP regions, overlooking non-coding variants and structural changes.

Purpose of the Study:

To evaluate long-range PCR and Nanopore sequencing for full-length PRNP sequencing.
To identify variants in both coding and non-coding regions, including structural variations.
To investigate somatic mosaicism in the PRNP octapeptide repeat region as a cause of sporadic prion disease.

Main Methods:

Long-range PCR and Nanopore sequencing were applied to 25 blood and brain samples.
Sequencing covered the entire PRNP gene, including regulatory regions.
Somatic mosaicism was explored using Nanopore sequencing data.

Main Results:

Nanopore sequencing demonstrated high accuracy, detecting variants comparable to Sanger sequencing.
Additional single-nucleotide variants were identified in PRNP non-coding regions.
No novel structural variants were discovered; observed somatic changes were potentially PCR artifacts.

Conclusions:

Nanopore sequencing offers accurate and rapid diagnosis for prion diseases, suitable for field applications.
The study identified novel non-coding PRNP variants.
Further investigation with single-molecule sequencing is needed to accurately detect somatic mutations in PRNP.