caa a22 4500 463209761 CHVBK 20180405153137.0 cr unu---uuuuu 170326e20070401xx s 000 0 eng 10.1007/s00412-006-0080-6 doi (NATIONALLICENCE)springer-10.1007/s00412-006-0080-6 Hybridization analysis of D4Z4 repeat arrays linked to FSHD [Elektronische Daten] [Melanie Ehrlich, Kesmic Jackson, Koji Tsumagari, Pilar Camaño, Richard Lemmers] Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease involving shortening of D4Z4, an array of tandem 3.3-kb repeat units on chromosome 4. These arrays are in subtelomeric regions of 4q and 10q and have 1-100 units. FSHD is associated with an array of 1-10 units at 4q35. Unambiguous clinical diagnosis of FSHD depends on determining the array length at 4q35, usually with the array-adjacent p13E-11 probe after pulsed-field or linear gel electrophoresis. Complicating factors for molecular diagnosis of FSHD are the phenotypically neutral 10q D4Z4 arrays, cross-hybridizing sequences elsewhere in the genome, deletions including the genomic p13E-11 sequence and part of D4Z4, translocations between 4q and 10q D4Z4 arrays, and the extremely high G + C content of D4Z4 arrays (73%). In this study, we optimized conditions for molecular diagnosis of FSHD with a 1-kb D4Z4 subfragment probe after hybridization with p13E-11. We demonstrate that these hybridization conditions allow the identification of FSHD alleles with deletions of the genomic p13E-11 sequence and aid in determination of the nonpathogenic D4Z4 arrays at 10q. Furthermore, we show that the D4Z4-like sequences present elsewhere in the genome are not tandemly arranged, like those at 4q35 and 10q26. Springer-Verlag, 2006 Ehrlich Melanie Program in Human Genetics and Department of Biochemistry, Tulane Medical School, New Orleans, LA, USA aut Jackson Kesmic Program in Human Genetics and Department of Biochemistry, Tulane Medical School, New Orleans, LA, USA aut Tsumagari Koji Program in Human Genetics and Department of Biochemistry, Tulane Medical School, New Orleans, LA, USA aut Camaño Pilar Unidad Experimental, Hospital Donostia, San Sebastián, Spain aut Lemmers Richard Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands aut Chromosoma Springer-Verlag 116/2(2007-04-01), 107-116 0009-5915 116:2<107 2007 116 412 https://doi.org/10.1007/s00412-006-0080-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00412-006-0080-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ehrlich Melanie Program in Human Genetics and Department of Biochemistry, Tulane Medical School, New Orleans, LA, USA aut NATIONALLICENCE 700 1- Jackson Kesmic Program in Human Genetics and Department of Biochemistry, Tulane Medical School, New Orleans, LA, USA aut NATIONALLICENCE 700 1- Tsumagari Koji Program in Human Genetics and Department of Biochemistry, Tulane Medical School, New Orleans, LA, USA aut NATIONALLICENCE 700 1- Camaño Pilar Unidad Experimental, Hospital Donostia, San Sebastián, Spain aut NATIONALLICENCE 700 1- Lemmers Richard Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands aut NATIONALLICENCE 773 0- Chromosoma Springer-Verlag 116/2(2007-04-01), 107-116 0009-5915 116:2<107 2007 116 412 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer