Zusammenfassung
Unter dem Oberbegriff der molekularen Karyotypisierung werden in der Humangenetik eingesetzte Mikroarray-basierte Methoden zusammengefasst, die in einem einzigen Experiment die hochauflösende Analyse des menschlichen Genoms zum Nachweis von Kopienzahlveränderungen, also Gewinnen und Verlusten von genomischem Material ermöglichen. Diese Methoden haben sich in den letzten Jahren von der Anwendung in der Forschung weiterentwickelt zu einem wichtigen Bestandteil der genetischen Diagnostik. Die molekulare Karyotypisierung wird in Zukunft die konventionelle Chromosomenuntersuchung als ersten Schritt in der zytogenetischen Diagnostik bei unklarer Diagnose ablösen. In diesem Beitrag wird ein kurzer Überblick über die Grundlagen der molekularen Karyotypisierung, die Möglichkeiten und Grenzen dieser Methode sowie die Indikationen für eine Anwendung in der genetischen Diagnostik gegeben.
Abstract
Molecular karyotyping includes microarray-based methods which allow high-resolution analysis of the human genome with respect to copy number changes, i.e., gains and losses of genomic material. In recent years, these methods, which were initially developed for research only, have been adopted as an important tool in genetic diagnostics. It is expected that molecular karyotyping will replace conventional cytogenetics (chromosome analysis) as the first-line analysis in case of unclear clinical diagnosis. This article provides a brief overview on the technical basics of molecular karyotyping, the advantages and challenges, as well as indications for application of this method in genetic diagnostics.
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Klopocki, E. Molekulare Karyotypisierung. Gynäkologe 44, 285–290 (2011). https://doi.org/10.1007/s00129-010-2726-y
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DOI: https://doi.org/10.1007/s00129-010-2726-y