The Diagnosis of Duchenne and Becker Muscular Dystrophy: Multiplex-PCR methods / 대한정형외과학회잡지
The Journal of the Korean Orthopaedic Association
;
: 763-767, 1999.
Article
in Korean
| WPRIM
| ID: wpr-646779
ABSTRACT
PURPOSE:
The objective of this study is to evaluate the value of multiple-PCR as a diagnostic modality in detection of dystrophin gene deletion by observing its detection rate and concordance rate with clinical diagnosis. MATERIALS ANDMETHODS:
Fifty-two male patients who were clinically diagnosed as DMD or BMD (Duchenne or Becker muscular dystrophy) and received multiple-PCR from 1994 to 1997 at our center were included in this study. The relationship between clinical phenotype and the location of gene deletion were studied using reading-frame rule. Dystrophin protein analysis by immunocyto-chemical technique was done in 7 cases with negative multiplex-PCR.RESULTS:
Out of fifty-two patients, thirty-four were DMD and eighteen as BMD clinically. Multiplex-PCR revealed dystrophin gene deletion in 19 patients (36%) consisting of twelve DMD and seven BMD cases. The locations of the gene deletion coincide with the clinical phenotype in 17 cases (89%). Among the 7 cases that underwent dystrophin protein analysis, 3 DMD and 2 BMD were confirmed.CONCLUSIONS:
Though no substantial gene deletion detection rate was observed in this study, multiple-PCR could be used as a first-line diagnostic tool in detecting dystrophin gene deletion in DMD/BMD patients based on its high concordance rate with phenotype and favorable patient compliance and convenience.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Dystrophin
/
Patient Compliance
/
Gene Deletion
/
Muscular Dystrophy, Duchenne
/
Diagnosis
Type of study:
Diagnostic study
Limits:
Humans
/
Male
Language:
Korean
Journal:
The Journal of the Korean Orthopaedic Association
Year:
1999
Type:
Article
Similar
MEDLINE
...
LILACS
LIS