Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophy |
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Authors: | Th Bettecken C R Müller |
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Institution: | Department of Human Genetics, University of Würzburg, Federal Republic of Germany. |
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Abstract: | Most known mutations in the gene region responsible for Duchenne or Becker muscular dystrophy are deletions of varying extent. Here we describe a 220-kb insertion within the DMD/BMD gene that cosegregates with a somewhat atypical course of muscular dystrophy in a pedigree. The insertion is demonstrated by field-inversion gel electrophoresis as an enlarged SfiI fragment hybridizing to probe J-Bir, while neighboring SfiI fragments (detected by probes PERT 87 and J-66) are unchanged. Hybridization with DMD c-DNA probes did not reveal alterations in coding sequences. In this pedigree, the altered SfiI fragments provide convenient markers for carrier identification. |
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