Article
Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.
Clinical chemistry - 1 Aug 2006
Zhou Youyou, Lum Josephine M S, Yeo Gare-Hoon, Kiing Jennifer, Tay Stacey K H, Chong Samuel S
Abstract excerpt
BACKGROUND: 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...
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