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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

Figure 2

Relative DNA methylation levels at germline gene promoters in whole blood and buccal swabs from ICF patients. Methylation analysis in whole blood (A) and buccal swabs (B) were assessed by Methylation-Sensitive Restriction Assay, followed by qRT-PCR amplification of the AciI digested product with primers flanking at least two AciI sites within the promoter CpG island. A non-cutter NcoI control digest served to normalize data that are presented as a percentage of methylation relative to the control digest. ICF subtypes 1, 2, and X are indicated and separated by dotted lines. For the X-linked gene TEX11, female patients are indicated as black bars. Raw data used to built this Figure can be found in Additional file8. WB and BS are control whole blood DNA and buccal swabs from healthy donor, respectively. Error bars represent standard error.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172