caa a22 4500 467986320 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205166 doi (NATIONALLICENCE)springer-10.1007/BF00205166 Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence [Elektronische Daten] [Roger Lebo, Lee Anderson, Salvatore DiMauro, Eric Lynch, Peter Hwang, Robert Fletterick] 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. Springer-Verlag, 1990 Lebo Roger Departments of Obstetrics, Gynecology, and Pediatrics, University of California, 94143-0720, San Francisco, CA, USA aut Anderson Lee Departments of Obstetrics, Gynecology, and Pediatrics, University of California, 94143-0720, San Francisco, CA, USA aut DiMauro Salvatore Department of Neurology, Columbia College of Physicians and Surgeons, 722 West 168th Street, 10032, New York, NY, USA aut Lynch Eric Departments of Obstetrics, Gynecology, and Pediatrics, University of California, 94143-0720, San Francisco, CA, USA aut Hwang Peter Department of Biochemistry and Biophysics, University of California, 94143-0720, San Francisco, CA, USA aut Fletterick Robert Department of Biochemistry and Biophysics, University of California, 94143-0720, San Francisco, CA, USA aut Human Genetics Springer-Verlag 86/1(1990-11-01), 17-24 0340-6717 86:1<17 1990 86 439 https://doi.org/10.1007/BF00205166 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205166 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lebo Roger Departments of Obstetrics, Gynecology, and Pediatrics, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Anderson Lee Departments of Obstetrics, Gynecology, and Pediatrics, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 700 1- DiMauro Salvatore Department of Neurology, Columbia College of Physicians and Surgeons, 722 West 168th Street, 10032, New York, NY, USA aut NATIONALLICENCE 700 1- Lynch Eric Departments of Obstetrics, Gynecology, and Pediatrics, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Hwang Peter Department of Biochemistry and Biophysics, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Fletterick Robert Department of Biochemistry and Biophysics, University of California, 94143-0720, San Francisco, CA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 17-24 0340-6717 86:1<17 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer