A multicenter investigation with interphase fluorescence in situ hybridization using X- and Y-chromosome probes

Gordon Dewald, Richard Stallard, A. A.I. Saadi, Susan Arnold, Patricia I. Bader, Ruthann Blough, Kathy Chen, B. Rafaël Elejalde, Catherine J. Harris, Rodney R. Higgins, Gerald A. Hoeltge, Wei Tong Hsu, Virginia Kubic, D. James McCorquodale, Mark A. Micale, J. W. Moore, Rosalie M. Phillips, Susan Scheib-Wixted, Stuart Schwartz, Steven SiembiedaKathy Strole, Peter Vantuinen, Gail H. Vance, Ann Wiktor, Laura Wise, Jar Fee Yung, Julie Zenger-Hain, Alan Zinsmeister

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

Twenty-six laboratories used X and Y chromosome probes and the same procedures to process and examine 15,600 metaphases and 49,400 interphases from Phaseolus vulgaris-leucoagglutinin (PHA)-stimulated lymphocytes. In Part I, each laboratory scored 50 metaphases and 200 interphases from a normal male and a normal female from its own practice. In Part II, each laboratory scored 50 metaphases and 200 interphases on slides prepared by a central laboratory from a normal male and a normal female and three mixtures of cells from the male and female. In Part III, each laboratory scored 50 metaphases (in samples of 5, 10, 15, and 20) and 100 interphases (in samples of 5, 10, 15, 20, and 50) on new, coded slides of the same specimens used in Part II. Metaphases from male specimens were scored as 98-99% XY with no XX cells, and 97-98% of interphases were scored as XY with 0.04% XX cells. Metaphases from female specimens were scored as 96-97% XX with 0.03% XY cells, and 94-96% of interphases were scored as XX with 0.05% XY cells. Considering the data as a model for any probe used with fluorescence in situ hybridization (FISH), a statistical approach assessing the impact of analytical sensitivity on the numbers of observations required to assay for potential mosaicisms and chimerisms is discussed. The workload associated with processing slides and scoring 50 metaphases and 200 interphases using FISH averaged 27.1 and 28.6 minutes, respectively. This study indicates that multiple laboratories can test/develop guidelines for the rapid, efficacious, and cost-effective integration of FISH into clinical service.

Original languageEnglish (US)
Pages (from-to)318-326
Number of pages9
JournalAmerican journal of medical genetics
Volume76
Issue number4
DOIs
StatePublished - Apr 1 1998
Externally publishedYes

Keywords

  • Analytical sensitivity
  • Chimerism
  • Clone
  • Interphase fluorescence in situ hybridization
  • Mosaicism
  • Quality assurance
  • Workload
  • X- and Y-chromosome probes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Dewald, G., Stallard, R., Saadi, A. A. I., Arnold, S., Bader, P. I., Blough, R., Chen, K., Rafaël Elejalde, B., Harris, C. J., Higgins, R. R., Hoeltge, G. A., Hsu, W. T., Kubic, V., James McCorquodale, D., Micale, M. A., Moore, J. W., Phillips, R. M., Scheib-Wixted, S., Schwartz, S., ... Zinsmeister, A. (1998). A multicenter investigation with interphase fluorescence in situ hybridization using X- and Y-chromosome probes. American journal of medical genetics, 76(4), 318-326. https://doi.org/10.1002/(SICI)1096-8628(19980401)76:4<318::AID-AJMG7>3.0.CO;2-L