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haplo-insufficiency |
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haplo-insufficiency [¦hap‚lō ′in·sə‚fish·ən·sē]
(genetics) In a diploid organism, the presence of an abnormal phenotype in which only one of the two copies of a particular gene yields its normal product, and a reduced amount rather than a qualitative change in the gene product leads to the phenotype. It is responsible for some, but not all, autosomal dominant disorders. Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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No references found | [FIGURE 1 OMITTED] Advances in the field of genetics have estimated that about 2% of idiopathic short stature is related to haplo-insufficiency of the short stature homeobox (SHOX) gene, which is found on the short arm of the X and Y chromosomes in the pseudo-autosomal region. Their topics include the phenomenology and mechanisms of dominance, phenotype and stochastic gene expression, mathematical models of haplo-insufficiency, biological consequences of dosage-dependent gene regulation in multicellular eukaryotes, and lessons from a genetic network about the causes of dominance. Confirmation that velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. |
haplo-insufficiency |
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