References in periodicals archive
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Allele-specific change of concentration and functional gene dose for the prediction of steady-state serum concentrations of amitriptyline and nortriptyline in CYP2C19 and CYP2D6 extensive and intermediate metabolizers.
This paper reports the characterization of a group of patients with primary lung cancer regarding the gene dose at loci corresponding to EGFR, PIK3CA and C-myc genes in tumor cells, compared with those found in adjacent lung tissue with normal phenotype from the same patients.
Specificity and sensitivity of a gene dose increase as neoplastic marker can be expressed as the fraction of pathologically determined tumor tissues of the group where measured gene dose exceeds a given threshold.
Gene dose of apoliprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.
This was accomplished by expressing the CYP2D6 genotype in terms of semi-quantitative CYP2D6 gene dose. These investigators applied a process they termed "allele-specific change of concentration on identical background" (ASCOC).
Functional gene dosages were calculated, based on measured ASCOC values for individual alleles, by defining the reference gene dose as having a value of 2 (Table 1).
From the results reported above, it is possible to calculate a quantitative "functional gene dose" (FGD).
To allow comparison with published data, we assigned a semiquantitative gene dose (SGD) of 1 for functional alleles, 0 for completely dysfunctional null alleles (e.g., *4), and 0.5 for the *41 and *10 alleles.
Peak areas can also be used to quantify gene dose (24, 25).
The HER2/neu copies for each tumor and cell line were compared with HER2/neu copies of the MRC cell line (single-copy control) to obtain the degree of amplification or gene dose. The gene dose was then compared with reported values for the cell lines (12, 28, 29).
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.
Identifying associations in regions like this where X-chromosomal gene doses are not balanced between men and women can be particularly valuable in helping us to understand why some characteristics differ between sexes, he continues.
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