MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai. Issue 5 (17th August 2014)

• Record Type: Journal Article
• Authors: Ji, Xing; Zhang, Jingmin; Xu, Yan; Long, Fei; Sun, Wei; Liu, Xiaoqin; Chen, Yingwei; Jiang, Wenting
• Is Part Of: Journal of clinical laboratory analysis. Volume 29:Issue 5(2015)
• Page Start: 405
• Page End: 411
• Publication Date: 2014-08-17
• Subjects: Diagnosis, Laboratory -- Periodicals; Medical laboratory technology -- Periodicals; 616
• DOI: 10.1002/jcla.21787
• Languages: English
• ISSNs: 0887-8013

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="jcla21787-sec-0010" sec-type="section"> <title>Background</title> <p>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 <italic>DMD</italic> mutations.</p> </sec> <sec id="jcla21787-sec-0020" sec-type="section"> <title>Methods</title> <p>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 <italic>DMD</italic> gene mutations.</p> </sec> <sec id="jcla21787-sec-0030" sec-type="section"> <title>Results</title> <p>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.</p> </sec> <sec id="jcla21787-sec-0040" sec-type="section"> <title>Conclusion</title> <p>The results of our study confirmed MLPA as an efficient clinical method for detecting <italic>DMD</italic> 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.</p> </sec> </abstract>