| Preferred Name |
Loss of Heterozygosity |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18016 |
| ALT_DEFINITION |
If there is one normal and one abnormal allele at a particular locus, as might be seen in an inherited autosomal dominant cancer susceptibility disorder, loss of the normal allele produces a locus with no normal function. When the loss of heterozygosity involves the normal allele, it creates a cell that is more likely to show malignant growth if the altered gene is a tumor suppressor gene. The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair. It is detected when heterozygous markers for a locus appear monomorphic because one of the alleles was deleted. When this occurs at a tumor suppressor gene locus where one of the alleles is already abnormal, it can result in neoplastic transformation. |
| code |
C18016 |
| DEFINITION |
A DNA sequence alteration process in which gain, loss, or exchange of DNA results in loss of function of one allele in a diploid cell. This term is most often used in the context of tumorigenesis, where a single copy of a tumor suppressor gene is sufficient to perform its function, and loss of the second copy may occur by a variety of DNA sequence rearrangements, resulting in bialleleic deficiency and permitting a step in the path to transformation. |
| FULL_SYN |
LOH |
| label |
Loss of Heterozygosity |
| Legacy_Concept_Name |
Loss_of_Heterozygosity |
| Preferred_Name |
Loss of Heterozygosity |
| prefixIRI |
C18016 |
| prefLabel |
Loss of Heterozygosity |
| Semantic_Type |
Acquired Abnormality |
| UMLS_CUI |
C0524869 |
| subClassOf |