gene dose


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gene dose

Genetics The number of copies of a particular gene present in a genome. See Gene, Genome.
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Genotypes traditionally Measured associated with Representative functional Semiquantitative EM (a) phenotype genotype gene dose gene dose Active/Active *1/*1 Reference 2.
This concept of semiquantitative gene dosing was validated by demonstrating that semiquantitative gene doses of 0.
The combined influence of CYP2C19 gene dose and CYP2D6 SGD is shown in Table 4.
Two studies have quantitatively examined the correlation between CYP2D6 gene dose (number of functional genes) and NT concentrations (35, 36).
Instead of counting the number of "functional" alleles and designating that number as the gene dose, we used the ASCOC values to calculate a quantitative FGD corresponding to the expected mean effect of an allele combination on the concentration of NT.
Both CYP2D6 (SGD) and CYP2C19 gene dose influence AT, NT, and AT + NT steady-state concentrations per dose unit and the NT/AT ratio.
4] Nonstandard abbreviations: TCA, tricyclic antidepressant; AT, amitriptyline; NT, nortriptyline; PM, poor metabolizer; IM, intermediate metabolizer; EM, extensive metabolizer; UM, ultrarapid metabolizer; gEM, genotype-predicted extensive metabolizer; gPM, genotype-predicted poor metabolizer; gIM, genotype-predicted intermediate metabolizer; gUM, genotype-predicted ultrarapid metabolizer; ASCOC, allele-specific change of concentration on identical background; MR, metabolic ratio; FGD, functional gene dose; and SGD, semiquantitative gene dose.
The gene dose was then compared with reported values for the cell lines (12, 28, 29).
Although there was a decrease in the apparent gene dose with the single-point estimate, amplification was still apparent in the abnormal (T-47D and SK-BR-3) cell lines.
For the 10 nonpathological samples tested with a single-point estimate, the mean gene dose and SD was 0.
Duplications or deletions of a chromosome or chromosome region containing the reference gene will distort the true HER2/neu gene dose.