Rapid detection of the <i>GJB2</i> c.235delC mutation based on CRISPR-Cas13a combined with lateral flow dipstick.

ABSTRACT: Hereditary hearing loss, an auditory neuropathy disorder, is characterized by its high prevalence and significant impact on the quality of life of those affected. In Chinese populations, the most prevalent gap junction beta-2 (GJB2) mutation hotspot is c.235delC. Currently available genetic tests require expensive instruments and specialized technicians or have long testing cycles and high costs, and therefore cannot meet point-of-care testing (POCT) requirements. The objective of this study was to evaluate the viability of a POCT kit. In only 42 min, we successfully identified the GJB2 mutation site c.235delC by integrating CRISPR-Cas nucleic acid detection with recombinase-aided amplification (RAA) and a lateral flow dipstick (LFD) method. This method has the capacity to de

SUBMITTER: Deng Y 

PROVIDER: S-EPMC11909576 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature