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Molecular Definition of High-resolution Multicolor Banding Probes: First Within the Human DNA Sequence Anchored FISH Banding Probe Set

Anja Weise, Kristin Mrasek, Ina Fickelscher, Uwe Claussen, Sau Wai Cheung, Wei Wen Cai, Thomas Liehr and Nadezda Kosyakova

Institute of Human Genetics and Anthropology, Jena, Germany (AW,KM,IF,UC,TL,NK); Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas (SWC,WWC); and Research Centre for Medical Genetics, Moscow, Russia (NK)

Correspondence to: Anja Weise, Institute of Human Genetics and Anthropology, D-07740 Jena, Germany. E-mail: aweise{at}mti.uni-jena.de

Fluorescence in situ hybridization (FISH) banding approaches are standard for the exact characterization of simple, complex, and even cryptic chromosomal aberrations within the human genome. The most frequently applied FISH banding technique is the multicolor banding approach, also abbreviated as m-band, MCB, or in its whole genomic variant multitude MCB (mMCB). MCB allows the differentiation of chromosome region–specific areas at the GTG band and sub-band level and is based on region-specific microdissection libraries, producing changing fluorescence intensity ratios along the chromosomes. The latter are used to assign different pseudocolors to specific chromosomal regions. Here we present the first bacterial artificial chromosome (BAC) array comparative genomic hybridization (aCGH) mapped, comprehensive, genome-wide human MCB probe set. All 169 region-specific microdissection libraries were characterized in detail for their size and the regions of overlap. In summary, the unique possibilities of the MCB technique to characterize chromosomal breakpoints in one FISH experiment are now complemented by the feature of being anchored within the human DNA sequence at the BAC level. (J Histochem Cytochem 56:487–493, 2008)

Key Words: multicolor banding approach • array comparative genomic hybridization • microdissection • fluorescence in situ hybridization banding

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