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  • Title: [Genetic analysis and prenatal diagnosis of Duchenne or Becker muscular dystrophy].
    Author: Zhao W, Jiang N, Li S, Li JS, Miao Y, Liang SY, Yu DY.
    Journal: Zhonghua Fu Chan Ke Za Zhi; 2019 Apr 25; 54(4):226-231. PubMed ID: 31006187.
    Abstract:
    Objective: To explore the mutation characteristics of DMD gene in patients with Duchenne or Becker muscular dystrophy and female carriers, to provide effective prenatal diagnosis. Methods: Samples were collected from 94 male patients clinically diagnosed with Duchenne or Becker muscular dystrophy and 121 corresponding female relatives from Qingdao Women and Children's Hospital from June 2011 to October 2018. Multiplex ligation-dependent probe amplification (MLPA) was used to detect their DMD gene, and 23 high risk pregnants were performed prenatal diagnosis. Any candidate of DMD gene single-exon deletion was validated by further PCR amplification. The sample with whole DMD gene deletion was confirmed by chromosomal microarray analysis (CMA) to detect copy number variations and break site. Results: Among 94 clinical Duchenne or Becker muscular dystrophy patients, 66(70.2%, 66/94) were detected gene mutation; 56 cases were exon deletion mutation and 10 cases were duplication mutation. In 121 female relatives, 48 cases (39.7%, 48/121) were diagnosed as carriers. The mutation carrying rate, was 64.5% (40/62) identified in 62 mothers of Duchenne or Becker muscular dystrophy patients. Five Duchenne or Becker muscular dystrophy fetuses and 5 carrier fetuses were prenatally diagnosed in 23 high risk pregnants. Two children with the entire DMD gene deletion were identified more deletions at Xp21, with deletions of 6.66 Mb and 10.64 Mb respectively. Conclusions: MLPA may be an important method to detect DMD gene mutation of deletion and duplication. Therefore, the diagnosis of probands, female carriers and making an effective prenatal diagnosis are essential to reduce the birth of children with Duchenne or Becker muscular dystrophy. 目的： 探讨假性肥大型肌营养不良症先证者和携带者的基因突变特点及产前诊断特点。 方法： 收集2011年6月至2018年10月在青岛市妇女儿童医院就诊的104个家系的94例假性肥大型肌营养不良症先证者及121例女性亲属，采用多重连接探针扩增（MLPA）技术检测DMD基因，并对其中23例高风险孕妇进行产前诊断。对单个DMD基因外显子缺失者采用PCR技术验证，对整个DMD基因缺失者行染色体微阵列分析以明确染色体片段拷贝数变异及断裂位点。 结果： 在94例临床诊断为假性肥大型肌营养不良症的先证者中，共发现DMD基因外显子缺失突变56例，重复突变10例，检出率为70.2%（66/94）。检测女性亲属121例，确诊DMD基因突变携带者48例，检出率为39.7%（48/121）。除4位母亲拒绝检测外，余62例已明确基因突变的先证者的母亲，共检出40例为相应突变携带者，母亲基因突变携带率为64.5%（40/62）。23例胎儿行产前诊断，确诊假性肥大型肌营养不良症男性患儿5例，女性携带胎儿5例。2例DMD基因缺失先证者在Xp21分别有6.66 Mb和10.64 Mb片段缺失。 结论： MLPA技术是检测DMD基因外显子缺失或重复突变的重要手段。确诊先证者、早期检出携带者并进行有效的产前诊断，是目前减少假性肥大型肌营养不良症发生的重要措施。.
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