A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones

Susanne Popp, Anna Jauch, Detlev Schindler, Michael R. Speicher, Christoph Lengauer, Helen Donis-Keller, Harold C. Riethman, Thomas Cremer

Research output: Contribution to journalArticle

Abstract

The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ hybridization (FISH) with "whole chromosome painting" probes derived from chromosome-specific DNA libraries and Alu-polymerase chain reaction (PCR) products of various region-specific yeast artificial chromosome (YAC) clones. To demonstrate the usefulness of this strategy for the characterization of chromosome rearrangements unidentifiable by banding techniques, an 8p+ marker chromosome with two extra bands present in the karyotype of a child with multiple anomalies, malformations, and severe mental retardation was investigated. A series of seven-color FISH experiments with sets of fluorochrome-labeled DNA library probes from flow-sorted chromosomes demonstrated that the additional segment on 8p+ was derived from chromosome 6. For a more detailed characterization of the marker chromosome, three-color FISH experiments with library probes specific to chromosomes 6 and 8 were performed in combination with newly established telomeric and subtelomeric YAC clones from 6q25, 6p23, and 8p23. These experiments demonstrated a trisomy 6pter→6p22 and a monosomy 8pter→8p23 in the patient. The present limitations for a broad application of this strategy and its possible improvements are discussed.

Original languageEnglish (US)
Pages (from-to)527-532
Number of pages6
JournalHuman Genetics
Volume92
Issue number6
DOIs
StatePublished - Dec 1993
Externally publishedYes

Fingerprint

Yeast Artificial Chromosomes
Fluorescence In Situ Hybridization
Gene Library
Genetic Markers
Chromosomes, Human, Pair 6
Clone Cells
Color
Chromosomes
Chromosome Painting
Chromosome Banding
Monosomy
Chromosomes, Human, Pair 8
Trisomy
DNA Probes
Karyotype
Fluorescent Dyes
Cytogenetics
Intellectual Disability
Libraries
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones. / Popp, Susanne; Jauch, Anna; Schindler, Detlev; Speicher, Michael R.; Lengauer, Christoph; Donis-Keller, Helen; Riethman, Harold C.; Cremer, Thomas.

In: Human Genetics, Vol. 92, No. 6, 12.1993, p. 527-532.

Research output: Contribution to journalArticle

Popp, Susanne ; Jauch, Anna ; Schindler, Detlev ; Speicher, Michael R. ; Lengauer, Christoph ; Donis-Keller, Helen ; Riethman, Harold C. ; Cremer, Thomas. / A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones. In: Human Genetics. 1993 ; Vol. 92, No. 6. pp. 527-532.
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