Loss of heterozigocity: what other diseases are associated with LOH?
- BerryLv 41 decade agoFavorite Answer
This terminology is currently used to describe the loss of a tumor suppressor gene.
You can postulate that something like alpha-1-antitrypsin could be similar, since heterozygotes for alpha-1-antitrypsin deficiency do not get the full-blown disease, but are more prone to COPD than individuals with both copies.
But it comes down to the "one-cell theory" that all cancers arise from a single malignant cell that starts tumorogenesis.
For my example, since you would have to knock out so many heterozygous foci to get the disease state that resembles the homozygous condition, it doesn't happen. But wipe out a single tumor suppressor gene, that cell can turn malignant, starting a full-blown tumor.