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Recurrent copy changes were further evaluated with immunohistochemistry, methylation specific PCR, and quantitative real-time PCR.
Maternally inherited copy changes were included in this latter category as the rearrangements may be causative without necessarily translating into similar abnormal GU traits in the female genitourinary tract.
Thus, maternally inherited copy changes were considered as of unclear clinical significance and noted as: (i) deletion in 7p22.1 for ambiguous genitalia; (ii) duplications in 4q35.2 and 5p15.31 for hypospadias; (iii) duplication in 5p15.2 and in the androgen receptor insensitivity region, Xq12 for cryptorchidism (Table 5).
Regions affected by these copy changes overlapped, but were not identical, between assemblies.
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Our results indicate that a window size 20 is needed in order to detect the lowest possible DNA change (one copy change) with reasonable statistical significance.
One-copy changes in the DNA-diploid stage may give large shifts of the G/R ratio, even after tetraploidization, whereas those after tetraploidization undergo small shift.
Second, we compared random priming (RP) labeling with nick translation (NT) labeling and found that the RP labeling gave fewer false-positive gains and fewer false-negative losses in the detection of one-copy changes.
The present study was designed to assess the effects of DOP-PCR and labeling method on the sensitivity of metaphase- and array-based CGHs in the detection of one-copy changes in near-tetraploid Kato-III cells.
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CEO of Professional Science Editing for Scientists @ prosciediting.com