FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

ABSTRACT: 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 proportion of unmethylated alleles on the active X chromosome. Herein, we examine the relationship of FMRP expression with methylation patterns of two fragile X-related epigenetic elements (FREE) analyzed using matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry and the AR. We showed that the differential methylation of the FREE2 sequence within fragile X m

SUBMITTER: Godler DE 

PROVIDER: S-EPMC3157613 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature