Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure

• Published in: Human mutation Vol. 13; no. 2; p. 173
• Main Authors: Dubourg, Christèle, Odent, Sylvie, Fergelot, Patricia, Le Gall, Jean-Yves, David, Véronique, Blayau, Martine
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 1999; Hindawi Limited
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU21>3.0.CO;2-0

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X‐linked neuromuscular disorders associated with alterations in the dystrophin gene. Analysis of 45 DMD/BMD patients has identified 18 patients with no deletion in the dystrophin gene. Heteroduplex analysis (HD), single strand conformation analysis (SSCA), and subsequent sequencing, identified five mutations and nine polymorphisms. Three out of the 5 mutations (780C>G, 2501‐1g→t, 9812ˆ9813ins9800‐9812) are first reported here. Furthermore we compare the relative efficiencies of the two alternatives methods (HD and SSCA) for screening sequence alterations. © 1998 Wiley‐Liss, Inc.