NCI Dictionary of Genetics Terms

11 results found for: D

D’Amico criteria: (DEE-uh-MEE-koh kry-TEER-ee-uh); A set of clinical criteria that is used to stratify prostate cancers into three risk categories to estimate cancer growth and spread. The criteria include Gleason score, prostate-specific antigen level, and clinical stage at diagnosis.
de novo mutation: (deh NOH-voh myoo-TAY-shun); A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo variant, new mutation, and new variant.
de novo variant: (deh NOH-voh VAYR-ee-unt); A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo mutation, new mutation, and new variant.
deleterious mutation: (DEH-leh-TEER-ee-us myoo-TAY-shun); A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, development of symptoms is more likely, but not certain. Also called disease-causing mutation, pathogenic variant, predisposing mutation, and susceptibility gene mutation.
deletion: (deh-LEE-shun); A type of genetic change that involves the absence of a segment of DNA. It may be as small as a single base but can vary significantly in size.
deoxyribonucleic acid: (dee-OK-see-RY-boh-noo-KLAY-ik A-sid); The molecule inside cells that contains the genetic information responsible for the development and function of an organism. DNA molecules allow this information to be passed from one generation to the next. DNA is made up of a double-stranded helix held together by weak hydrogen bonds between purine-pyrimidine nucleotide base pairs: adenine (A) paired with thymine (T), and guanine (G) paired with cytosine (C). Also called DNA.
depth of coverage: (... KUH-veh-rij); Refers to the number of times a nucleotide is read during sequencing. A greater depth of coverage can increase confidence in the final results. Deep coverage aids in differentiating sequencing errors from single nucleotide polymorphisms. This can be specifically useful when a patient has a mosaicism or when a tumor is heterogeneous for a mutation.
disease-causing mutation: (dih-ZEEZ-KAW-sing myoo-TAY-shun); A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, development of symptoms is more likely, but not certain. Also called deleterious mutation, pathogenic variant, predisposing mutation, and susceptibility gene mutation.
DNA: The molecule inside cells that contains the genetic information responsible for the development and function of an organism. DNA molecules allow this information to be passed from one generation to the next. DNA is made up of a double-stranded helix held together by weak hydrogen bonds between purine-pyrimidine nucleotide base pairs: adenine (A) paired with thymine (T), and guanine (G) paired with cytosine (C). Also called deoxyribonucleic acid.
domain: (doh-MAYN); A specific physical region or amino acid sequence in a protein that is associated with a particular function or corresponding segment of DNA.
double heterozygosity: (DUH-bul HEH-teh-roh-zy-GAH-sih-tee); The presence of two different mutated alleles at two separate genetic loci.