The Diagnosis of Duchenne and Becker Muscular Dystrophy: Multiplex-PCR methods.
- Author:
Woo Nam MOON
1
;
Young Cho KIM
;
Soo Kyung CHOI
;
Jae Yong AHN
;
Doo Hwan KIM
;
In Chul KIM
Author Information
1. Department of Orthopedic Surgery, Sungkyunkwan University College of Medicine.
- Publication Type:Original Article
- Keywords:
Becker muscular dystrophy;
Multiplex-PCR
- MeSH:
Diagnosis*;
Dystrophin;
Gene Deletion;
Humans;
Male;
Muscular Dystrophy, Duchenne*;
Patient Compliance;
Phenotype
- From:The Journal of the Korean Orthopaedic Association
1999;34(4):763-767
- CountryRepublic of Korea
- Language:Korean
-
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 AND METHODS: 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.
