haplo-insufficiency

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.
References in periodicals archive ?
An alteration in the coding sequence of the GNAS gene leads to a haplo-insufficiency and a dysmorphic phenotype referred to as Albright's syndrome or Albright's hereditary osteodystrophy (AHO).
These observations suggest that only skipping of exon 8 but not other mutations in other parts of the DFNA5 gene results in hearing loss, and the hearing loss associated with DFNA5 might represent a mechanism of gain-of-function rather than haplo-insufficiency.
The prevalence of psychosis in those with 22q11 deletion syndrome is high (~25%), suggesting that haplo-insufficiency of a gene or genes in this region may confer a substantially increased risk.
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.
SHOX-related haplo-insufficiency disorders are estimated to have a prevalence of 1/4 000 and are known to account for a not insignificant proportion of cases of idiopathic short stature.
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
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.