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A new strategy for the detection of subtelomeric rearrangements
Authors:Christine Fauth  Hongen Zhang  Stephanie Harabacz  Jill Brown  Kaan Saracoglu  Gaby Lederer  Olaf Rittinger  Imma Rost  Roland Eils  Lyndal Kearney  Michael R Speicher
Institution:Institut für Anthropologie und Humangenetik, LMU München, Germany,
Cancer Genetics Branch, National Human Genetics Research Institute, NIH, Bethesda, Maryland, USA,
MRC Molecular Haematology Unit, Institute of Molecular Medicine, Oxford, UK,
Intelligent Bioinformatics Systems, German Cancer Research Center, Heidelberg, Germany,
Klinische Genetik, St.-Johanns-Spital, Salzburg, Austria,
Abteilung für medizinische Genetik der Kinderklinik, LMU München, Germany,
Abstract:We present a new strategy for the detection of subtelomeric rearrangements. This approach is based on two hybridizations with different probe sets. The first set consists of microdissected subtelomeric probes (each 5-10 megabases in size) labeled combinatorially employing 7 different fluorochromes. With this set, subtelomeric interchromosomal exchanges can be detected in a 24-color experiment. The second set comprises a second generation of subtelomeric PAC-, P1- and BAC-clones. Probes for p- and q-arms are labeled with two different colors. This second set detects small deletions; in addition it provides regional information, so that translocated material identified by the first probe set can be assigned to the p- or q-arm of a chromosome. The test has been evaluated in a blind study on a series of subtle translocations and deletions.
Keywords:
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