Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes

Wen Lin Kuo, Hisako Tenjin, Richard Segraves, Dan Pinkel, Mitchell S. Golbus, Joe Gray

Research output: Contribution to journalArticle

112 Citations (Scopus)

Abstract

Fluorescence in situ hybridization (FISH) with chromosome-specific probes has been applied to detection of numerical aberrations involving chromosomes 13, 18, and 21 in metaphase and interphase amniocytes. High-complexity, composite probes for chromosomes 13, 18, and 21 were used as hybridization probes for this study. These probes were constructed as chromosome-specific libraries in Bluescribe plasmids and are designated pBS-13, pBS-18, and pBS-21. Elements of these probes bind at numerous sites along the target chromosome and, when detected fluorescently, stain essentially the entire long arm of the target chromosome. The target chromosome number (i.e., the number of chromosomes of the type for which the probe was specific) was correctly determined in 20 of 20 samples in which metaphase spreads were analyzed and in 43 of 43 samples in which interphase nuclei were analyzed; all of these studies were conducted in blind fashion. These results suggest the utility of FISH with composite probes for rapid detection of numerical aberrations in metaphase and interphase amniotic cells.

Original languageEnglish (US)
Pages (from-to)112-119
Number of pages8
JournalAmerican Journal of Human Genetics
Volume49
Issue number1
StatePublished - Jul 1991
Externally publishedYes

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Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 21
Interphase
Aneuploidy
Metaphase
Fluorescence In Situ Hybridization
Chromosomes
Libraries
Plasmids
Coloring Agents

ASJC Scopus subject areas

  • Genetics

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Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. / Kuo, Wen Lin; Tenjin, Hisako; Segraves, Richard; Pinkel, Dan; Golbus, Mitchell S.; Gray, Joe.

In: American Journal of Human Genetics, Vol. 49, No. 1, 07.1991, p. 112-119.

Research output: Contribution to journalArticle

Kuo, Wen Lin ; Tenjin, Hisako ; Segraves, Richard ; Pinkel, Dan ; Golbus, Mitchell S. ; Gray, Joe. / Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. In: American Journal of Human Genetics. 1991 ; Vol. 49, No. 1. pp. 112-119.
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