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Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure
Author(s) -
Dubourg Christèle,
Odent Sylvie,
Fergelot Patricia,
Le Gall JeanYves,
David Véronique,
Blayau Martine
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu21>3.0.co;2-0
Subject(s) - heteroduplex , dystrophin , biology , genetics , gene , muscular dystrophy , duchenne muscular dystrophy , exon , mutation , sequence (biology) , microbiology and biotechnology
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.