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Figure 1 | Molecular Cytogenetics

Figure 1

From: Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Figure 1

Quantitative Southern Blot analysis of the SNRPN exon α locus to determine gene dosage and methylation status. Southern blot analysis was performed using the SNRPN exon α probe, which detects a methylated maternal band at 4.2 kb and unmethylated paternal band at 0.8 kb. Densitometry was performed on the blot, which indicated that the proband (P) shows increased dosage of the paternal unmethylated allele when compared to the parental samples (F: Father, M: Mother) with a ratio of 1.47:1, consistent with paternal methylation of the der(15) chromosome. This was further supported by methylation specific PCR, which showed paternal:maternal ratio of 1.8:1 (not shown).

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