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Fig. 4 | Clinical Epigenetics

Fig. 4

From: A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings

Fig. 4

mPCR differentiates methylation mosaicism in PM alleles for sibling pairs. PM amplicon analysis from 7 sibling pairs showing CGG profile in the FAM (top panels, blue trace) and methylation fraction in the HEX (bottom panels, green trace) channels with allele ratio (AR), age of onset of neurological signs in years old (yo) and indication of FXTAS status. Methylation profiles showed predominantly methylated shorter amplicons and unmethylated fraction for longer amplicons. Within profile pairs, the relative ratio of methylated to unmethylated peaks were distinctive. An unmethylated male reference allele is shown to illustrate the distribution of allele peaks without a methylated fraction. Only premutation allele sizes as peak maxima are listed, ARs were determined from the percent methylation of the normal allele (not shown)

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