Molecular Analysis of Angelman Syndrome
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Scan day: 13 February 2014 UTC
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Description: Describes the Southern blot test used in diagnosis.
Molecular Analysis of Angelman Syndrome Molecular Analysis of Angelman Syndrome There are different strategies for the molecular analysis of Angelman syndrome (AS), methylation analysis, FISH analysis, or linkage analysis. Most cost-effective and most easily performed, a direct test of the affected individual can be undertaken by methylation analysis at the locus D15S63. This assay distinguishes maternal and paternal loci using the methylation-sensitive restriction endonuclease, Hpa II, due to methylation of the maternal locus. The assay will detect about 80% of AS affected individuals regardless of molecular basis but does not usually distinguish the mechanism (possible mechanisms include maternal deletion, paternal uniparental disomy (UPD), or other imprinting mutation. This test involves a Southern blot analysis.
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| Page title: | Molecular Analysis of Angelman Syndrome |
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| Date | Creation Date: 12-sep-1998 Expiration Date: 11-sep-2017 |