Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.

ABSTRACT:

Background

Fragile X syndrome (FXS) is primarily caused by the expansion of CGG repeats in the 5' untranslated region of the FMR1 gene. Accurate detection of expanded FMR1 alleles is essential for timely diagnosis and management. Triplet-repeat primed PCR is the most widely used method for detecting FXS; however, it has limitations in detecting low DNA input (< 10 ng/μL) and low-level mosaicism (< 5%). This study aimed to develop an improved method for detecting FMR1 CGG repeat expansions, outperforming existing methods in efficiency, reliability and sensitivity.

Methods

We developed a novel four-primer PCR with capillary electrophoresis assay (FP-PCR/CE) and validated its performance in identifying and sizing FMR1 alleles using DNA standards and multi-center clinical sample

SUBMITTER: Shou XY 

PROVIDER: S-EPMC12578688 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature