Small marker chromosome identification in metaphase and interphase using centromeric multiplex FISH (CM-FISH)

Octavian Henegariu, Patricia Bray-Ward, Sevilhan Artan, Gail Vance, Mazin Qumsyieh, David C. Ward

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Multicolor karyotyping procedures, such as multiplex fluorescence in situ hybridization (M-FISH), spectral karyotyping, or color-changing karyotyping, can be used to detect chromosomal rearrangements and marker chromosomes in prenatal diagnosis, peripheral blood cultures, leukemia, and solid tumors, especially in cases where G-banding is not sufficient. A regular M-FISH analysis requires relatively large amounts of labeled DNA (microgram quantities), is not informative in interphase nuclei, hybridization can take up to 2 to 3 days, and unlabeled human chromosome-painting probes are not available commercially. Unique probes (plasmids, PAC), specific for centromeric or subtelomeric chromosomal regions, can replace the painting probes in M-FISH to address specific issues, such as the identification of marker chromosomes and aneuploidies. A set of plasmid probes carrying repetitive sequences specific for the α-satellite region of all human chromosomes were combined in a metaphase assay and an interphase assay, allowing identification of aneuploidies in one hybridization step, on a single cytogenetic slide. The fluorophore-dUTP and the labeled antibodies required to label and detect the DNA probes can be prepared in any laboratory. All DNA probes can be easily isolated and labeled using common molecular cytogenetic procedures. Because of the repetitive nature of the probes, hybridization time is short, usually less than 1 hour, and the analysis can be performed with nonspecialized image-processing software.

Original languageEnglish
Pages (from-to)475-481
Number of pages7
JournalLaboratory Investigation
Volume81
Issue number4
StatePublished - 2001

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Interphase
Metaphase
Fluorescence In Situ Hybridization
Genetic Markers
Karyotyping
DNA Probes
Human Chromosomes
Aneuploidy
Cytogenetics
Plasmids
Spectral Karyotyping
Chromosome Painting
Paintings
Nucleic Acid Repetitive Sequences
Prenatal Diagnosis
Leukemia
Software
Color
Antibodies
DNA

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Henegariu, O., Bray-Ward, P., Artan, S., Vance, G., Qumsyieh, M., & Ward, D. C. (2001). Small marker chromosome identification in metaphase and interphase using centromeric multiplex FISH (CM-FISH). Laboratory Investigation, 81(4), 475-481.

Small marker chromosome identification in metaphase and interphase using centromeric multiplex FISH (CM-FISH). / Henegariu, Octavian; Bray-Ward, Patricia; Artan, Sevilhan; Vance, Gail; Qumsyieh, Mazin; Ward, David C.

In: Laboratory Investigation, Vol. 81, No. 4, 2001, p. 475-481.

Research output: Contribution to journalArticle

Henegariu, O, Bray-Ward, P, Artan, S, Vance, G, Qumsyieh, M & Ward, DC 2001, 'Small marker chromosome identification in metaphase and interphase using centromeric multiplex FISH (CM-FISH)', Laboratory Investigation, vol. 81, no. 4, pp. 475-481.
Henegariu, Octavian ; Bray-Ward, Patricia ; Artan, Sevilhan ; Vance, Gail ; Qumsyieh, Mazin ; Ward, David C. / Small marker chromosome identification in metaphase and interphase using centromeric multiplex FISH (CM-FISH). In: Laboratory Investigation. 2001 ; Vol. 81, No. 4. pp. 475-481.
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