Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure
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...
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Published in | Human mutation Vol. 13; no. 2; p. 173 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
John Wiley & Sons, Inc
1999
Hindawi Limited |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | istex:9ADE5EFA1AB2697B55814A9BDA97C5A4599E6EB3 ark:/67375/WNG-231951S3-B ArticleID:HUMU21 http://journals.wiley.com/1059‐7794/pdf/mutation/222.pdf Communicated by: R.G.H. Cotton Human Mutation Mutation in Brief #222 (1998) Online Online Citation |
ISSN: | 1059-7794 1098-1004 |
DOI: | 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU21>3.0.CO;2-0 |