Epigenetics, genomic imprinting and uniparental disomy
DNA methylation and histone marks, parent-of-origin imprinting at 15q11-q13 and 11p15, how uniparental disomy arises, and the clinical tests and drugs that depend on methylation.
Tier 2Medical sciences concept
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Epigenetics is heritable change in gene expression without a change in DNA sequence. The main marks are DNA methylation at CpG dinucleotides and histone modification.
- Genomic imprinting: a small number of genes (about 100 to 200) are expressed from only one parent's copy. The other copy is silenced by methylation set in the egg or sperm.
- If the only working copy is lost by deletion, by uniparental disomy (UPD) or by an imprinting error, disease follows. The phenotype depends on which parent the missing copy came from.
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Sources
- Thompson & Thompson Genetics and Genomics in Medicine (9th ed.)Elsevier (Cohn, Scherer and Hamosh, eds), 2023
- Prader-Willi Syndrome. GeneReviewsUniversity of Washington, Seattle (Driscoll, Miller and Cassidy)
- Angelman Syndrome. GeneReviewsUniversity of Washington, Seattle (Dagli, Mathews and Williams)
- Uniparental disomy as a mechanism for human genetic diseaseAmerican Journal of Human Genetics (Spence et al., 1988;42:217-26), 1988
- Last updated
- 14 November 2026
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