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

✍ Scribed by Christèle Dubourg; Sylvie Odent; Patricia Fergelot; Jean-Yves Le Gall; Véronique David; Martine Blayau

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
115 KB
Volume
13
Category
Article
ISSN
1059-7794

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✦ Synopsis

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, 9812^9813ins9800-9812) are first reported here. Furthermore we compare the relative efficiencies of the two alternatives methods (HD and SSCA) for screening sequence alterations.

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