Xing Ji1,2, Jingmin Zhang1,2, Yan Xu1,2, Fei Long2, Wei Sun2, Xiaoqin Liu2,3, Yingwei Chen1,2, Wenting Jiang1,2. 1. Department of Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. 2. Shanghai Institute for Pediatric Research, Shanghai, China. 3. Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Abstract
BACKGROUND: Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We reported 3-year clinic experience from a single hospital in Shanghai using multiplex ligation dependent probe amplification (MLPA) assay to detect DMD mutations. METHODS: Four hundred and fifty-one males and 184 females, who were clinically diagnosed as DMD/BMD patients or carriers at our hospital's outpatient clinic, were collected and performed with MLPA to detect DMD gene mutations. RESULTS: Seventeen novel mutation points not reported in the Leiden Muscular Dystrophy pages were identified in this study. We found that the most frequent deletion spots ranged from exon45 to exon52, and exon2, exon19 were the two most frequently detected duplication spots. CONCLUSION: The results of our study confirmed MLPA as an efficient clinical method for detecting DMD gene mutations in DMD/BMD patients. Single exon mutation detected by MLPA should be verified by other methods, and we should emphasize that only precise clinical molecular diagnosis can lead to the feasibility of prenatal diagnosis.
BACKGROUND:Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We reported 3-year clinic experience from a single hospital in Shanghai using multiplex ligation dependent probe amplification (MLPA) assay to detect DMD mutations. METHODS: Four hundred and fifty-one males and 184 females, who were clinically diagnosed as DMD/BMDpatients or carriers at our hospital's outpatient clinic, were collected and performed with MLPA to detect DMD gene mutations. RESULTS: Seventeen novel mutation points not reported in the Leiden Muscular Dystrophy pages were identified in this study. We found that the most frequent deletion spots ranged from exon45 to exon52, and exon2, exon19 were the two most frequently detected duplication spots. CONCLUSION: The results of our study confirmed MLPA as an efficient clinical method for detecting DMD gene mutations in DMD/BMDpatients. Single exon mutation detected by MLPA should be verified by other methods, and we should emphasize that only precise clinical molecular diagnosis can lead to the feasibility of prenatal diagnosis.
Authors: Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals Journal: Nucleic Acids Res Date: 2002-06-15 Impact factor: 16.971
Authors: Rowida Almomani; Nienke van der Stoep; Egbert Bakker; Johan T den Dunnen; Martijn H Breuning; Ieke B Ginjaar Journal: Neuromuscul Disord Date: 2009-05-05 Impact factor: 4.296