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Article

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

World journal of pediatrics : WJP - 1 Oct 2025

Shou Xin-Yi, Zhu Zhi-Wei, Jin Hua, Hu Ji-Hong, Yan Ti-Zhen, Zhong Qing-Yan, Li Wen-Hao, Mao Jian-Hua, Dong Min-Yue, Xu Qiong, Ni Shao-Qing

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40940631
DOI: 10.1007/s12519-025-00977-5
PMCID: PMC12578688

Genes

FMR1

Provenance

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