Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.
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.
Dubourg
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C
Laboratoire de Génétique Moléculaire, CHU Pontchaillou, UPR 41 CNRS, Faculté de Médecine, Rennes, France.
Odent
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S
Fergelot
P
P
Le Gall
J Y
JY
David
V
V
Blayau
M
M
D016189:Dystrophin / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational
D016189:Dystrophin; D009692:Nucleic Acid Heteroduplexes