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Related Experiment Video

Updated: Jun 5, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Evidence for G6PD variant classification from multiplexed functional assays.

Renee C Geck^1,2, Melinda K Wheelock¹, Rachel L Powell¹

¹Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA.

|June 4, 2026

Summary

This summary is machine-generated.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects many globally. This study functionally assessed 9,504 G6PD variants, identifying 4,773 that cause G6PD deficiency, aiding clinical decisions.

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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

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Published on: February 10, 2023

Area of Science:

Biochemistry
Genetics
Pharmacogenomics

Background:

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzyme disorder.
Over 60% of known G6PD variants are of uncertain significance, complicating clinical management.
Most G6PD-deficient individuals are asymptomatic, presenting challenges in variant interpretation.

Purpose of the Study:

To functionally characterize G6PD variants and determine clinical significance.
To resolve variants of uncertain significance for improved G6PD deficiency management.
To inform drug prescribing and dosing for G6PD-deficient patients.

Main Methods:

High-throughput functional assays measuring G6PD activity and abundance.
Assessed 9,504 missense, nonsense, and synonymous G6PD variants.
Validated assay performance using G6PD variants with known clinical effects.

Main Results:

Functional assay data confirmed the importance of NADP+ binding and G6PD dimerization.
Identified 4,773 missense variants contributing to G6PD deficiency.
Identified 2,295 missense variants unlikely to contribute to G6PD deficiency.

Conclusions:

Generated evidence to classify thousands of G6PD variants.
Aims to improve understanding of G6PD protein function.
Facilitates the implementation of genetic medicine for G6PD deficiency.