Haploinsufficiency occurs when a diploid organism only has a single working copy of a wild-type gene (with the other copy inactivated by hereditary mutation or another mechanism), and the single functional copy of the gene does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to an abnormal or disease state.

Haploinsufficiency is therefore an example of genetic dominance, as only one mutant gene is necessary to produce a phenotype effect.

Human diseases brought exhibiting haploinsufficiency include:

Cleidocranial dysostosis
Achondroplastic dwarfism
Huntington's Disease
polydactyly
참고링크: http://en.wikipedia.org/wiki/Haploinsufficiency
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