Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence |
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| Authors: | Roger V Lebo Lee A Anderson Salvatore DiMauro Eric Lynch Peter Hwang Robert Fletterick |
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| Institution: | (1) Departments of Obstetrics, Gynecology, and Pediatrics, University of California, 94143-0720 San Francisco, CA, USA;(2) Department of Biochemistry and Biophysics, University of California, 94143-0720 San Francisco, CA, USA;(3) Department of Neurology, Columbia College of Physicians and Surgeons, 722 West 168th Street, 10032 New York, NY, USA |
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| Abstract: | Summary When probes throughout the McArdle disease (myophosphorylase) gene region were used to search for DNA polymorphisms, only an MspI polymorphism was found in 94 enzyme-probe combinations. Along with an insertion/deletion polymorphism more 3 to the gene locus, these polymorphisms will be informative in 75% of at-risk patients. These results contrast strikingly to the six polymorphic sites detected in 15 enzyme-probe combinations in the homologous Her's disease (liver phosphorylase) gene region. This single MspI polymorphic site includes a CpG sequence of known increased mutability suggesting that DNA regions with rare polymorphisms will have most polymorphic sites at sequences with enhanced mutability. Fluorescence in situ hybridization sublocalized this gene to proximal band 11q13, establishing a point of cross-reference between the physical and genetic maps. |
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