Li Tao, Wu Dong, Hou Qiao-fang, Wang Li, Guo Qian-nan, Kang Bing, Liu Hong-yan, Yang Ke, Ding Xue-bing, Liao Shi-xiu
The People's Hospital of Henan Province, Zhengzhou, Henan, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):40-4. doi: 10.3760/cma.j.issn.1003-9406.2013.01.010.
To investigate the efficiency of multiplex ligation-dependent probe amplification (MLPA) combined with short tandem repeat (STR) linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy (DMD).
Gender of the fetus was first determined by the presence of Y chromosome sex-determining gene (SRY). Subsequently, combined MLPA and STR linkage analysis were applied for the probands, pregnant women and fetuses in 45 affected families.
Among the 45 families, 31 SRY-positive fetuses were identified, among whom six were diagnosed with DMD. For 14 SRY-negative fetuses, four were diagnosed as carriers. The remainders were normal.
MLPA can detect mutations in the exons of dystrophin gene, whilst STR linkage analysis can determine whether the fetus has inherited the maternal X chromosome bearing the mutant gene. As the result, the method can detect affected fetuses in which no exonic mutations are detected with MLPA. By combining the two methods, the diagnostic rate for DMD can be greatly improved.
探讨多重连接依赖探针扩增（MLPA）联合短串联重复序列（STR）连锁分析用于杜氏肌营养不良症（DMD）产前诊断的有效性。
首先通过Y染色体性别决定基因（SRY）的存在确定胎儿性别。随后，对45个患病家庭中的先证者、孕妇及胎儿应用MLPA和STR连锁分析相结合的方法。
在45个家庭中，鉴定出31例SRY阳性胎儿，其中6例被诊断为DMD。对于14例SRY阴性胎儿，4例被诊断为携带者。其余胎儿正常。
MLPA可检测肌营养不良蛋白基因外显子中的突变，而STR连锁分析可确定胎儿是否继承了携带突变基因的母体X染色体。因此，该方法可检测出MLPA未检测到外显子突变的患病胎儿。通过将两种方法相结合，可大大提高DMD的诊断率。
