Open AccessSimplified Molecular Diagnosis of Fragile X Syndrome by Fluorescent Methylation-Specific PCR and GeneScan Analysis
Author(s) -
Youyou Zhou,
Josephine MS Lum,
Gare-Hoon Yeo,
Jennifer S. H. Kiing,
S K Tay,
Samuel S. Chong
Publication year - 2006
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.2006.068593
Subject(s) - fragile x syndrome , fmr1 , microbiology and biotechnology , southern blot , biology , dna methylation , genetics , genomic dna , chromosomal fragile site , allele , dna , gene , gene expression , chromosome
Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is most commonly related to hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene. Southern blot analysis is the most commonly used method for molecular diagnosis of FXS. We describe a simplified strategy based on fluorescent methylation-specific PCR (ms-PCR) and GeneScan analysis for molecular diagnosis of fragile X syndrome.
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