Single cell segmental aneuploidy detection is compromised by S phase.

ABSTRACT:

Background

Carriers of balanced translocations are at high risk for unbalanced gametes which can result in recurrent miscarriages or birth defects. Preimplantation genetic diagnosis (PGD) is often offered to select balanced embryos. This selection is currently mainly performed by array CGH on blastomeres. Current methodology does not take into account the phase of the cell cycle, despite the variable copy number status of different genomic regions in S phase.

Results

Cell lines derived from 3 patients with different chromosomal imbalances were used to evaluate the accuracy of single cell array CGH. The different cell cycle phases were sorted by flow cytometry and 10 single cells were picked per cell line per cell cycle phase, whole genome amplified and analyzed by BAC arrays

SUBMITTER: Dimitriadou E 

PROVIDER: S-EPMC4114140 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature