Assessing Skewed X‐Chromosome Inactivation. (10th July 2018)

• Record Type: Journal Article
• Authors: Liehr, Thomas; Ziegler, Monika; Löhmer, Sharon; Weise, Anja
• Editors: Dracopoli, Nicholas C.; Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
• Is Part Of: Current protocols in human genetics. Volume 98(2018)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2018-07-10
• Subjects: 5‐ethynyl‐2‐deoxyuridine (EdU) -- chromosome -- Lyon hypothesis -- skewed X‐chromosome inactivation -- X‐chromosome inactivation; Human genetics -- Laboratory manuals; Genetic Techniques; Human genetics; Laboratory manuals; 599.935028
• DOI: 10.1002/cphg.66
• Languages: English
• ISSNs: 1934-8258

Abstract

Abstract: We describe a simple and straightforward method for detection and characterization of X‐chromosome inactivation in females and/or individuals with more than one X chromosome. The X‐chromosome inactivation pattern is visualized on a single‐cell level using 5‐ethynyl‐2‐deoxyuridine (EdU) instead of the previously widely applied 5‐bromo‐2′‐deoxyuridine (BUdR). The fluorochrome‐labeled nucleoside analog EdU is incorporated into late‐replication chromosomal regions of living blood cells in vitro; thus, it can also be used to specifically highlight the inactive X chromosome within a cytogenetic preparation. The EdU‐based test for assessing skewed X‐chromosome inactivation can only be meaningfully applied if the X chromosome of the index patient can be cytogenetically distinguished under a microscope from the normal one. © 2018 by John Wiley & Sons, Inc.