title: [Study of the gene deletions and the immunofluorescence of muscle in patients with DMD/BMD].
abstract: OBJECTIVE
  To detect the deletion distribution of dystrophin gene and dystrophin changes in muscle cells of the patients with Duchenne/Becker muscular dystrophy (DMD/BMD), furthermore to investigate the relationship between them and clinical symptoms.
  
  
  METHODS
  42 patients with DMD/BMD were screened by 9 primers multiplex PCR. The patients from 5 DMD and 2 BMD were detected by immunofluorescence technique for analyzing dystrophin located in muscle cell membrane, compared with 2 normal males.
  
  
  RESULTS
  The deletion of one or more exons was found in 21 patients. 16 cases (76.2%) were detected in the central region and 5 patients (23.8%) in the 5' extreme region, especially in exon 48 (6 patients). Negative result of staining was seen in 5 DMD patients. Of these, one case of DMD had no detectable levels of dystrophin, but no deletion of DMD gene. Dystrophin immunostaining from two BMD patients consisted of a discontinuous staining pattern around most fibers.
  
  
  CONCLUSIONS
  It might be possible that some correlation existed between the type of gene deletion and the degree of severity of the disease. The amount and size of exon deletion may not affect the symptoms. DMD/BMD are highly heterogeneous in clinical manifestation and in inheritance pattern. The pathologic foundation of DMD and BMD is the absence or abnormal expression of dystrophin. The consequence of that depends not only on the degree, but also on the function.
authors.affiliation: Department of Neurology, Hebei Provincial Peoples's Hospital, Shijiazhuang 050051, China.
authors.forename: Yan-Hong
authors.initials: YH
authors.lastname: Dong
authors.forename: Pei-Yuan
authors.initials: PY
authors.lastname: Lu
authors.forename: Ci
authors.initials: C
authors.lastname: Wei
authors.forename: He-Bo
authors.initials: HB
authors.lastname: Wang
authors.forename: Bao-Hua
authors.initials: BH
authors.lastname: Zhao
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000032:analysis; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D016189:Dystrophin