National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21068

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http://purl.bioontology.org/ontology/MESH/D019656 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/SO_0001786 Sequence Types and Features Ontology LOOM
http://purl.obolibrary.org/obo/SO_0001786 Human Disease Ontology 123 LOOM