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. Author manuscript; available in PMC: 2019 Jul 18.
Published in final edited form as: Bone. 2019 Mar 21;123:145–152. doi: 10.1016/j.bone.2019.03.023

Fig. 3.

Fig. 3.

Methylation pattern (%) at GNAS locus in patients with spor-PHP1B with or without upd(20)pat.

Dosage and differential methylation analyses were assessed by multiplex ligation-dependent probe amplification and methylation specific-MLPA (MS-MLPA). The relative peak area of each target probe from the ligation-only reaction of the patient DNA was compared to that obtained from the controls. Data are expressed as percentage of methylation (mean ± SD) for each DMRs. The percentage was 50 in the control for the DMRs in which allele-specific methylation was observed. A percentage closed to 100 suggests biallelic methylation. In contrast, a value closed to 0 suggests biallelic demethylation at these DMRs. p values for comparison between groups are indicated. ns: no significance.