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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Comparison of droplet digital PCR and multiplex li ...
Comparison of droplet digital PCR and multiplex ligation-dependent probe amplification in identifying CFHR3-CFHR1 deleted region
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Pdf Summary
Atypical hemolytic uremic syndrome (aHUS) is a rare genetic disorder that causes damage to blood vessels and leads to end-stage renal disease. This condition is associated with abnormalities in the complement alternative pathway. Variations in genes involved in complement regulatory proteins, such as CFH, CFHR1, CFHR2, CFHR3, CFHR4, and CFHR5, have been reported in patients with aHUS. In some cases, gene conversion and non-homologous recombination can result in the deletion of CFHR1 and CFHR3 genes and the generation of CFH::CFHR1 hybrid genes.<br /><br />Currently, laboratories use multiplex ligation-dependent probe amplification (MLPA) to detect the deletion of CFHR3-CFHR1 in aHUS patients. However, this method can be labor-intensive and requires a well-trained technologist to perform. Therefore, researchers are developing a more user-friendly approach using droplet digital PCR (ddPCR) to detect CFHR3-CFHR1 deletion.<br /><br />Preliminary data from the study shows that ddPCR can accurately identify CFHR3-CFHR1 deletion in positive DNA samples. However, there were discordant results in the CFHR1 region for three samples when compared to MLPA results. Further investigation is needed to determine the cause of this discrepancy, whether it is due to primer design or unknown genomic structure changes. Despite this, ddPCR shows potential as a diagnostic tool for identifying large deletions in the CFHR3-CFHR1 region.<br /><br />In conclusion, ddPCR provides a more user-friendly alternative to MLPA for detecting CFHR3-CFHR1 deletion in patients with aHUS. Further development is ongoing to improve the accuracy and specificity of ddPCR signals. This test has the potential to aid molecular diagnostics and geneticists in identifying copy number variations in the CFHR3-CFHR1 region.
Asset Subtitle
Presenting Author - Yu-Wei Cheng, PhD; Co-Author - Frank Mularo, MS; Co-Author - Zheng Wang, MD;
Meta Tag
Genetic Testing
Methodology
Co-Author
Frank Mularo, MS
Co-Author
Zheng Wang, MD
Presenting Author
Yu-Wei Cheng, PhD
Keywords
Atypical hemolytic uremic syndrome
genetic disorder
blood vessels
end-stage renal disease
complement alternative pathway
CFH
CFHR1
CFHR3-CFHR1 deletion
ddPCR
molecular diagnostics
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