單倍劑量不足(haploinsufficiency )指一個等位基因突變後，另一個等位基因能正常表達，但這隻有正常水平50%的蛋白質不足以維持細胞正常的生理功能。
基本介紹
- 中文名：單倍劑量不足
- 外文名：haploinsufficiency
- 原因：正常50%蛋白質不足維持細胞生理
- 發生部位：基因
Haploinsufficiency occurs when a diploid organism only has a single functional copy of a gene (with the other copy inactivated by mutation) 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 diseased state. It is responsible for some but not all autosomal dominant disorders.
