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

Journal article

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.

Authors: Hart, K; Monaco, A; Kunkel, L; Bobrow, M

• Publication status: Published
• Journal: Human genetics
• Volume: 77
• Issue: 1
• Pages: 88-91
• Publication date: 1987-09-01
• DOI: 10.1007/bf00284721
• EISSN: 1432-1203
• ISSN: 0340-6717
• Language: English
• Keywords: DNA Restriction Enzymes; Genetic Markers; Humans; DNA; Chromosome Deletion; Exons; Chromosome Mapping; Muscular Dystrophies