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Detection of an exon 53 polymorphism in the dystrophin gene

✍ Scribed by Thomas W. Prior; Audrey C. Papp; Pamela J. Snyder; Mary S. Sedra

Publisher: Springer
Year: 1993
Tongue: English
Weight: 428 KB
Volume: 92
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00244477

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✦ Synopsis

We utilized a heteroduplex method to screen for small mutations in Duchenne muscular dystrophy patients who did not have deletions or duplications. A dystrophin exon 53 heteroduplex band was identified in 14.4% of the affected patients. Direct sequencing of the amplified product from DNA producing the heteroduplex revealed the presence of a polymorphism in the coding region. The codon for asparagine was converted from AAT to AAC.

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