title: Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2.
abstract: Types 1 and 2 myotonic dystrophy are neuromuscular disorders caused by genomic expansions of simple sequence repeats. These mutations are unstable in somatic cells, which leads to an age-dependent increase of expansion length. Studies to determine whether changes in repeat size may influence disease severity are limited by the small amount of DNA that can be recovered from tissue biopsies samples. Here we used locked nucleic acid oligonucleotide probes and rolling circle amplification to determine length of the expanded repeat in sub-microgram quantities of genomic DNA. These methods can facilitate genetic analysis in cells and tissues obtained from individuals with myotonic dystrophy.
authors.affiliation: Department of Neurology, Box 673, University of Rochester Medical Center, Rochester, NY 14642, USA.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nakamori
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Sobczak
authors.forename: Richard T
authors.initials: RT
authors.lastname: Moxley
authors.forename: Charles A
authors.initials: CA
authors.lastname: Thornton
mesh_terms: D006801:Humans; D008969:Molecular Sequence Data; D009223:Myotonic Dystrophy / Q000145:classification / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D021141:Nucleic Acid Amplification Techniques; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015183:Restriction Mapping; D019680:Trinucleotide Repeat Expansion
chemical_list: C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases