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A small deletion in the Duchenne/Becker muscular dystrophy locus —a functionally important region?

✍ Scribed by K. A. Hart; A. P. Monaco; L. M. Kunkel; M. Bobrow

Publisher
Springer
Year
1987
Tongue
English
Weight
597 KB
Volume
77
Category
Article
ISSN
0340-6717

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✦ Synopsis

A DNA deletion in a patient with Becker muscular dystrophy (BMD) has been delineated by restriction endonuclease mapping. The deletion is unusually small, removing six kilobases (kb) of DNA distal to pERT 87-1 (DXS164). This region has previously been shown to contain an exon of a candidate gene which, when defective, causes Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy. Removal of this exon and surrounding DNA is apparently sufficient, in this case, to cause a BMD phenotype. The occurrence of this deletion in DXS164 would appear to confirm that this region is part of the BMD locus. Many DMD patients have deletions in and around this region, adding further evidence for the allelic nature of the two disorders. This fortuitous deletion may identify a functionally important domain of the protein product in terms of the severity of phenotype manifested.

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Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: The use of new designed primers for the analysis of the major deletion “hot spot” region
✍ Coral-Vázquez, Ramón; Arenas, Diego; Cisneros, Bulmaro; Peñaloza, Laura; Salaman 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 416 KB 👁 3 views

We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients (DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one (52%) of the patients had a deletion of one or several of the exons. Most of the alterations (87%) were clustered in exons 44-52,