Zhu Hai-Yan, Li Jie, Yang Ying, Wu Xing, Zhu Xiang-Yu, Zhu Rui-Fang, Zhang Ying, Duan Hong-Lei, Hu Ya-Li
Prenatal Diagnosis Center, Affiliated Drumtower Hospital, School of Medicine, Nanjing University, Nanjing 210008, China.
Zhonghua Yi Xue Za Zhi. 2009 Jul 7;89(25):1753-6.
To analyze the pathogenic mutation of sporadic patients in Duchenne/ Becker muscular dystrophy (DMD/BMD) families and to perform prenatal diagnosis, identify the female carriers and evaluate the ratio of de novo mutation in these pedigrees.
A total of 30 sporadic DMD/BMD families were included. Traditional multiplex PCR was used to detect the 18 exons in the deletion hot area of DMD gene. MLPA was used to detect the deletion or duplication mutations of DMD gene for 30 patients and 28 females from 23 families. Prenatal diagnosis was performed in 19 families.
Deletion mutation was detected in 19 patients through mPCR. Twenty-one deletions and 3 duplication mutations were detected by MLPA. Among 21 mothers, 10 mothers were carriers of deletion mutation and two duplication mutation carriers. The other 9 mothers were non-carriers, the mutations in these families were de novo and the ratio was 37.5%. Among seven sisters, five were carriers and two non-carriers. In the prenatal diagnosis families, 2 of 8 female fetuses were carriers and 5 of 12 male fetus patients.
The MLPA technique has proved to be an accurate and reliable tool not only for the deletion and duplication mutations of DMD patients, but also for the prenatal diagnosis and the female carriers in these families. Prenatal diagnosis;
分析杜氏/贝克型肌营养不良症（DMD/BMD）家系散发患者的致病突变，进行产前诊断，鉴定女性携带者并评估这些家系中新生突变的比例。
共纳入30个散发的DMD/BMD家系。采用传统多重PCR检测DMD基因缺失热点区域的18个外显子。应用多重连接探针扩增技术（MLPA）检测30例患者及来自23个家系的28名女性的DMD基因缺失或重复突变。对19个家系进行产前诊断。
通过多重PCR在19例患者中检测到缺失突变。MLPA检测到21个缺失和3个重复突变。在21位母亲中，10位母亲为缺失突变携带者，2位为重复突变携带者。另外9位母亲为非携带者，这些家系中的突变是新生的，比例为37.5%。在7名姐妹中，5名是携带者，2名是非携带者。在产前诊断的家系中，8名女性胎儿中有2名是携带者，12名男性胎儿患者中有5名。
MLPA技术已被证明是一种准确可靠的工具，不仅可用于检测DMD患者的缺失和重复突变，还可用于这些家系的产前诊断和女性携带者的检测。产前诊断；
