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Figure 3 | BMC Medical Genetics

Figure 3

From: 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes

Figure 3

High resolution melthing analysis. For both MS-HRM and HRM for screening for mutations, each sample was run in duplicate. In A) the melting curves observed for the PCR fragment analyzed in methylation-specific HRM (MS-HRM) assay for the SNRPN locus are shown. Blue lines represent the pattern of methylation of SNRPN for patients affected by Prader-Willi Syndrome (PWS); Red lines represent the pattern of methylation of SNRPN for patients affected by Angelman Syndrome (AS); Green lines represent the normal pattern of methylation of SNRPN locus: 1 shows the methylation curve detected in the normal control and mother (II.1); 2 shows the methylation curve detected in patient III.1 and 3 shows the methylation curve detected in patient III.5. In B) the melting curves observed for the PCR fragment analyzed in HRM assay for the screening of mutations in the UBE3A gene are shown. Blue lines represent the melting curve pattern obtained for healthy controls presenting with a normal UBE3A gene (without any mutation); Green lines represent the melting curve pattern obtained for all individuals (II.1, III.1 and III.5) presenting with the 1031-1034delTAAC mutation in the UBE3A gene.

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