Detection of retinoblastoma gene copy number in metaphase chromosomes and interphase nuclei by fluorescence in situ hybridization

Anne Kallioniemi, O. P. Kallioniemi, F. M. Waidman, L. C. Chen, L. C. Yu, Y. K T Fung, H. S. Smith, D. Pinkel, Joe Gray

Research output: Contribution to journalArticle

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Abstract

Fluorescence in situ hybridization (FISH) was applied to detect the copy number of the retinoblastoma (RBI) tumor suppressor gene in metaphase chromosomes and interphase nuclei. We used 14 λ phage clones spanning the whole RBI gene region as a probe and obtained a specific hybridization signal in normal metaphase chromosomes at 13q 14. Normal interphase nuclei showed two RBI signals in about 90% of cases, whereas two cell lines with cytogenetically defined deletions involving the RBI gene showed only one hybridization signal in about 80% of the nuclei. Analogous changes were detected in metaphase chromosomes. Multicolor FISH with subsets of the phage clones allowed visualization of subregions within the 200-kb gene in interphase nuclei. Analysis of clinical breast cancer samples showed that most of the cells contained two copies of the RBI gene, even when restriction fragment length polymorphism analysis showed loss of heterozygosity (LOH) at the RBI locus. This indicates that LOH at the RBI locus in breast cancer cells probably involves mechanisms other than physical deletion.

Original languageEnglish (US)
Pages (from-to)190-193
Number of pages4
JournalCytogenetic and Genome Research
Volume60
Issue number3-4
DOIs
StatePublished - 1992
Externally publishedYes

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Retinoblastoma Genes
Gene Dosage
Interphase
Metaphase
Fluorescence In Situ Hybridization
Chromosomes
Loss of Heterozygosity
Bacteriophages
Genes
Clone Cells
Breast Neoplasms
Retinoblastoma
Tumor Suppressor Genes
Restriction Fragment Length Polymorphisms
Cell Line

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Cell Biology

Cite this

Detection of retinoblastoma gene copy number in metaphase chromosomes and interphase nuclei by fluorescence in situ hybridization. / Kallioniemi, Anne; Kallioniemi, O. P.; Waidman, F. M.; Chen, L. C.; Yu, L. C.; Fung, Y. K T; Smith, H. S.; Pinkel, D.; Gray, Joe.

In: Cytogenetic and Genome Research, Vol. 60, No. 3-4, 1992, p. 190-193.

Research output: Contribution to journalArticle

Kallioniemi, A, Kallioniemi, OP, Waidman, FM, Chen, LC, Yu, LC, Fung, YKT, Smith, HS, Pinkel, D & Gray, J 1992, 'Detection of retinoblastoma gene copy number in metaphase chromosomes and interphase nuclei by fluorescence in situ hybridization', Cytogenetic and Genome Research, vol. 60, no. 3-4, pp. 190-193. https://doi.org/10.1159/000133333
Kallioniemi, Anne ; Kallioniemi, O. P. ; Waidman, F. M. ; Chen, L. C. ; Yu, L. C. ; Fung, Y. K T ; Smith, H. S. ; Pinkel, D. ; Gray, Joe. / Detection of retinoblastoma gene copy number in metaphase chromosomes and interphase nuclei by fluorescence in situ hybridization. In: Cytogenetic and Genome Research. 1992 ; Vol. 60, No. 3-4. pp. 190-193.
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AU - Chen, L. C.

AU - Yu, L. C.

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AU - Smith, H. S.

AU - Pinkel, D.

AU - Gray, Joe

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