Open AccessIdentification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis
Author(s) -
Solange Aliaga,
Howard R. Slater,
David Francis,
Desirée du Sart,
Xin Li,
David J. Amor,
Angelica M. Alliende,
Lorena Santa María,
Víctor Faúndes,
Paulina Morales,
César Trigo,
Isabel Salas,
Bianca Curotto,
David E. Godler
Publication year - 2015
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2015.244681
Subject(s) - fragile x syndrome , allele , dna methylation , methylation , genetics , buccal swab , biology , neurocognitive , autism , medicine , psychiatry , dna , cognition , gene , neuroscience , gene expression
FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, largely because the first-line PCR tests showing a normal or GZ allele are not reflexed to the second-line test that can detect FM.
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