X-AUTOSOME AND X-Y TRANSLOCATIONS IN FEMALE CARRIERS: X-CHROMOSOME INACTIVATION EASILY DETECTABLE BY 5-ethynyl-2-deoxyuridine (EdU)
Donat M1, Louis a2, Kreskowski K1, Ziegler M1, Weise a1, schreyer I1,3, Liehr t1,*
*Corresponding Author: Dr. thomas Liehr, Universtätsklinikum Jena, Institut für Humangenetik, am Klinikum 1, D-07747 Jena, Germany. tel: +49-3641-939-68-50. Fax. +49-3641-939-68-52. e-mail: thomas.Liehr@ med.uni-jena.de
page: 87

MATERIALS AND METHODS

Overall, cytogenetically worked-up material from peripheral blood was used. the edU incorporation and detection together with fluorescence in situ hybridization (FIsH) using the probe DXZ1 were done as previously reported on this material [6]. a female (positive) and male (negative) were used as controls. One female with an X-autosome translocation was originally studied due to infertility; during parental studies it turned out that the translocation was maternally derived. another female was also studied for infertility and an XY-translocation was identified. Banding cytogenetics was done according to standard procedures. Molecular cytogenetics was done as previously reported [7]. We applied a multicolor banding (MCB) probe set for the X-chromosome [8], a microdissection derived partial chromosome paint for chromosome 18p (pcp18p) [9], whole chromosome paints (WCp) for X- and Y-chromosomes [10] and commercially available probes for centromeres of X-chromosome (DXZ1) and chromosome 18 (D18Z1) (abbott/Vysis, Wiesbaden, Germany). Also locus-specific probes for the Kallmann-syndrome region in Xp22.31 (KaL1; abbott/Vysis), the subtelomeric region of the short arm of the X-chromosome (subtelXpter; Abbott/Vysis) and a bacterial artificial chromosome derived probe for rp11-943F15 in Yq11.22 were used. 4,6-Diamidin-2-phenylindole (DapI) was used as a counterstain and for computerbased inverted DapI-banding.



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