A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome.

ABSTRACT:

Objectives

Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T > C), p.M41V (c.121A > G), and p.M41L (c.121A > C) in codon 41 of exon 3. Currently, sanger sequencing was mainly used to detect these mutations, which has low sensitivity and low throughput. There is a need of high sensitivity, simple and high throughput method to characterize patients with VEXAS syndrome.

Methods

Based on our proprietary XNA technology, we have developed a QClamp® Plex platform to detect eight mutations in a single reaction using the Luminex xMap technology. The assay sensitivity, specificity and precision were subsequently evaluated. Furthermore, the reference interval and clinical sensitivity/specificity were es

SUBMITTER: Ma Y 

PROVIDER: S-EPMC11075056 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature