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Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome.

Genetic testing and molecular biomarkers - 1 Apr 2010

Saunders Carol J, Friez Michael J, Patterson Melanie, Nzabi Masha, Zhao Weiwei, Bi Chengpeng

Abstract excerpt

Although few examples are formally documented, all polymerase chain reaction-based testing is theoretically vulnerable to allele drop-out (ADO), the failure to amplify one of the two alleles present in a cell. In a clinical setting, this can lead to false positive or negative diagnosis. We investigated the mechanisms leading to ADO in the MECP2 gene in two unrelated female patients undergoing testing for Rett...

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Source

Identifiers

PMID: 20384458
DOI: 10.1089/gtmb.2009.0178

Genes

ADO
MECP2

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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