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Article

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.

The Journal of molecular diagnostics : JMD - 1 Jul 2010

Lyon Elaine, Laver Thomas, Yu Ping, Jama Mohamed, Young Keith, Zoccoli Michael, Marlowe Natalia

Abstract excerpt

Population screening has been proposed for Fragile X syndrome to identify premutation carrier females and affected newborns. We developed a PCR-based assay capable of quickly detecting the presence or absence of an expanded FMR1 allele with high sensitivity and specificity. This assay combines a triplet repeat primed PCR with high-throughput automated capillary electrophoresis. We evaluated assay performance...

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Source

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Identifiers

PMID: 20431035
DOI: 10.2353/jmoldx.2010.090229
PMCID: PMC2893636

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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