Li Qing, Li Shao-ying, Hu Dong-gui, Sun Xiao-fang, Chen Dun-jin, Zhang Cheng, Jiang Wei-ying
Guangzhou Second People's Hospital, Guangzhou Research Institute of Obstetrics and Gynecology, Guangzhou 510150, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2006 Feb 18;38(1):53-6.
Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and perform prenatal diagnosis.
In our study, from 1994 to 2005, using a different combination of 5 methods, including SRY gene amplification, multiplex PCR, multiplex Fluorescence PCR capillary electrophoresis, multiplex ligation-dependent probe amplification (MLPA) and linkage analysis of short tandem repeats (STR), 36 prenatal diagnosis were performed for pregnancies at risk of having a DMD/BMD baby through amniocentesis.
Fourteen out of 21 male fetuses were found to be affected and respective pregnancies were terminated. A combined diagnostic rate of 83% was achieved for 30 cases with deletions, duplications, and non-deletion mutations after tested by more than one method.
Using a combined method, we can diagnoses patients and carriers in DMD families, and perform prenatal diagnosis for the risk fetus. MLPA provides a simple, rapid and accurate method for deletions and duplications of all the 79 DMD exons. MLPA method for DMD diagnosis is the first report in our country.
杜兴氏和贝克氏肌营养不良症（DMD/BMD）是一种由肌营养不良基因的突变引起的X连锁致死性隐性疾病。对于这种严重且致残的疾病，尚无有效的治疗方法。我们建立了一种联合方法来检测携带者并进行产前诊断。
在我们的研究中，从1994年至2005年，使用包括SRY基因扩增、多重PCR、多重荧光PCR毛细管电泳、多重连接依赖性探针扩增（MLPA）和短串联重复序列（STR）连锁分析这5种方法的不同组合，通过羊膜穿刺术对有生育DMD/BMD患儿风险的妊娠进行了36次产前诊断。
21例男性胎儿中有14例被发现患病，相应妊娠被终止。通过一种以上方法检测后，30例存在缺失、重复和非缺失突变的病例的联合诊断率达到了83%。
使用联合方法，我们能够诊断DMD家族中的患者和携带者，并对有风险的胎儿进行产前诊断。MLPA为所有79个DMD外显子的缺失和重复提供了一种简单、快速且准确的方法。MLPA用于DMD诊断的方法在我国为首报。
