Posted by & filed under Part 19: BLOOD.

Nat Genet. 2003 Jun;34(2):157-65.

Transcription of antisense RNA leading to gene silencing and methylation as a
novel cause of human genetic disease

Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR.

In this article, Tufarelli and colleagues describe a new genetic mechanism of human disease, in a patient with alpha-thalassemia. A deletion in a nearby gene, LUC7L, causes antisense mediated cis-acting methylation and silencing of the HBA2 gene.

For more information on the epigenetic silencing of genes, please see chapter 18.1

For more information on thalassemia, please see chapter 181.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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