- change) in the gene may have wiped out production of message. Or the message or the protein produced by the cell may be unstable or degraded by the cell. The term "haploinsufficiency" is of recent vintage. It was cobbled together for use in genetics, cell biology, and molecular medicine from "haploid" (one instead of two chromosomes or two genes) + "insufficiency." Haploinsufficiency is related to hemizygosity.
* * *hap·lo·in·suf·fi·cien·cy (hap″lo-in″sə-fishґən-se) the situation in which the contribution from a single copy of a normal allele, as in an individual carrying a heterozygous mutation or hemizygous at a particular locus, is inadequate to provide normal function.
Medical dictionary. 2011.
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