title: [Gene diagnosis of facioscapulohumeral muscular dystrophy].
abstract: OBJECTIVE
  Perform gene diagnosis for Chinese facioscapulohumeral muscular dystrophy(FSHD).
  
  
  METHODS
  Digest genome DNA with restriction enzymes EcoR I only and EcoR I associated with Bln I. Use 0.6% agarose gel electrophoresis and Southern blotting hybridization with probe P13E11.
  
  
  RESULTS
  For FSHD patients, the sizes of EcoR I + Bln I/P13E11 DNA fragments ranged from 15kb to 33kb. For normal controls, they were over 41kb. Two presymptomatic patients were found.
  
  
  CONCLUSIONS
  It is feasible to perform gene diagnosis and presymptomatic diagnosis for most Chinese FSHD patients by Southern blotting hybridization with probe P13E11, following double digestion of genome DNA with restriction enzymes EcoR I and Bln I.
authors.affiliation: Department of Neurology, Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong 510080 P. R. China. drzengying@21cn.com
authors.forename: Y
authors.initials: Y
authors.lastname: Zeng
authors.forename: C
authors.initials: C
authors.lastname: Zhang
authors.forename: Q
authors.initials: Q
authors.lastname: Su
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis / Q000235:genetics*