10 results found for: N
negative predictive value
(NEH-guh-tiv preh-DIK-tiv VAL-yoo)
The likelihood that an individual with a negative test result is truly unaffected and/or does not have the particular gene mutation in question. Also called NPV.
An alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents, or a mutation that arises in the fertilized egg itself during early embryogenesis. Also called de novo mutation.
An individual who does not carry a mutation previously identified in his or her family.
The state in which a genetic trait, although present in the appropriate genotype, fails to manifest itself in the phenotype (e.g., a woman with a BRCA1 mutation who lives to be elderly and never develops breast or ovarian cancer).
A mutation that alters the genetic code in a way that causes the premature termination of a protein. The altered protein may be partially or completely inactivated, resulting in a change or loss of protein function.
A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation.
The likelihood that an individual with a negative test result is truly unaffected and/or does not have the particular gene mutation in question. Also called negative predictive value.
A molecule consisting of a nitrogen-containing base (adenine, guanine, thymine, or cytosine in DNA; adenine, guanine, uracil, or cytosine in RNA), a phosphate group, and a sugar (deoxyribose in DNA; ribose in RNA). DNA and RNA are polymers comprised of many nucleotides, strung together like beads in a necklace.
A mutation that results in either no gene product or the absence of function at the phenotypic level.
The study of the interaction of dietary and genetic factors and its effect on metabolism, health status, and risk of disease.