DNA Deletions in Dystrophin Gene and Clinical Phenotype of Duchenne Muscular Dystrophy in the San-in Area, Japan

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概要

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• For the purpose of genetic counseling of patients with Duchenne muscular dystrophy (DMD), we examined DNA deletion in the dystrophin gene on 35 patients with DMD in the San-in area, an ideal district for studying genetic diseases. The deletions in the gene were found in 17 patients by Southern blot analyses using six cDNA probes covering the entire 14 kb transcript. Most of the deletions were located in the two hot spot regions, as shown by cDMD1-2a and cDMD8 probes. In addition, the majority of deletions in the gene was out-of-frame type, even in the groups with milder clinical phenotypes. The correlation between clinical grade of DMD and the position of DNA deletion in the gene fit the reading frame model only in 64.7% of our cases. In the present study, however, rather than the position of deletion, extent of the deletion in the gene appeared to be more significantly related to the severity of this disease.

• 鳥取大学の論文
• 1995-03-01

著者

• Nitta Tatsuo

  Division Of Neurology Faculty Of Medicine Tottori University

関連論文

• DNA Deletions in Dystrophin Gene and Clinical Phenotype of Duchenne Muscular Dystrophy in the San-in Area, Japan

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