Full Karyotype Interphase Cell Analysis

Journal Article · Thu Apr 19 00:00:00 EDT 2018 · Journal of Histochemistry and Cytochemistry

DOI:https://doi.org/10.1369/0022155418771613· OSTI ID:1462282

Baumgartner, Adi ^[1]; Ferlatte Hartshorne, Christy ^[2]; Polyzos, Aris A. ^[3]; Weier, Heinz-Ulrich G. ^[3]; Weier, Jingly Fung ^[4]; O’Brien, Ben  ^[5]

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1. Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, California, Life Sciences Division, E.O. Lawrence Berkeley National Laboratory, Berkeley, California, Biomedical Science, School of Health Sciences, York St John University, York, United Kingdom
2. Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, California
3. Life Sciences Division, E.O. Lawrence Berkeley National Laboratory, Berkeley, California
4. Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, California, Dermatopathology Service, University of California, San Francisco, California, Life Sciences Division, E.O. Lawrence Berkeley National Laboratory, Berkeley, California
5. Life Sciences Division, E.O. Lawrence Berkeley National Laboratory, Berkeley, California, Department of Perioperative Medicine, St Bartholomew’s Hospital & Barts Heart Centre, London, United Kingdom, Outcomes Research Consortium, Cleveland Clinic, Cleveland, Ohio

Aneuploidy seems to play not only a decisive role in embryonal development but also in tumorigenesis where chromosomal and genomic instability reflect a universal feature of malignant tumors. The cost of whole genome sequencing has fallen significantly, but it is still prohibitive for many institutions and clinical settings. No applied, cost-effective, and efficient technique has been introduced yet aiming at research to assess the ploidy status of all 24 different human chromosomes in interphases simultaneously, especially in single cells. Here, we present the selection of human probe DNA and a technique using multistep fluorescence in situ hybridization (FISH) employing four sets of six labeled FISH probes able to delineate all 24 human chromosomes in interphase cells. This full karyotype analysis approach will provide additional diagnostic potential for single cell analysis. The use of spectral imaging (SIm) has enabled the use of up to eight different fluorochrome labels simultaneously. Thus, scoring can be easily assessed by visual inspection, because SIm permits computer-assigned and distinguishable pseudo-colors to each probe during image processing. This enables full karyotype analysis by FISH of single-cell interphase nuclei.

• Sponsoring Organization: USDOE
• OSTI ID: 1462282
• Journal Information: Journal of Histochemistry and Cytochemistry, Journal Name: Journal of Histochemistry and Cytochemistry Vol. 66 Journal Issue: 8; ISSN 0022-1554
• Publisher: SAGE Publications
• Country of Publication: United States
• Language: English