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Fig. 3 | BMC Medical Genomics

Fig. 3

From: A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

Fig. 3

Methylation analysis of the RB1 promoter in the study patient using bisulfite-treated DNA derived from peripheral blood. (a) Agarose gel electrophoresis of MSP products. Amplified products of methylated and unmethylated DNA are indicated. CpG methylated HeLa genomic DNA was used as a positive control (mCpG). (b) Frequency of methylation in the 27 CpG sites obtained by bisulfite sequencing; 3.0 × 104 and 1.2 × 104 of next-generation sequencing reads were mapped to each CpG in the patient and healthy control, respectively. The CpGs located within transcription factor binding sites are underlined. Position #15 is a common methylation site

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