Article
FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.
The Journal of molecular diagnostics : JMD - 1 Sept 2011
Godler David E, Slater Howard R, Bui Quang M, Ono Michele, Gehling Freya, Francis David, Amor David J, Hopper John L, Hagerman Randi, Loesch Danuta Z
Abstract excerpt
Fragile X syndrome (FXS) is caused by loss of the fragile X mental retardation gene protein product (FMRP) through promoter hypermethylation, which is usually associated with CGG expansion to full mutation size (>200 CGG repeats). Methylation-sensitive Southern blotting is the current gold standard for the molecular diagnosis of FXS. For females, Southern blotting provides the activation ratio (AR), which is the...
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