Multilocus genetic analysis of single interphase cells by spectral imaging

摘要: Numerical chromosome aberrations are detrimental to early embryonic, fetal and perinatal development of mammals. When fetuses carrying a chromosomal imbalance survive term, an aberrant gene dosage typically leads stillbirth or causes severely altered phenotype. Aneuploidy any the 24 chromosomes will negatively impact on human development, preimplantation prenatal genetic diagnosis test should thus score as many possible. Since cells available for analysis likely be in interphase, we set out develop rapid enumeration procedure based hybridization chromosome-specific probes spectral imaging detection. The probe was chosen allow simultaneous ten types expected detect more than 70% all numerical responsible spontaneous abortions, i.e., 9, 13, 14, 15, 16, 18, 21, 22, X, Y. Cell fixation protocols were optimized achieve desired detection sensitivity reproducibility. We able resolve identify separate signals interphase nuclei from different cells, including lymphocytes, uncultured amniocytes, blastomeres. In summary, this study demonstrates strength imaging, allowing us construct partial karyotypes individual by assessing number each target types.