Zhang Yan-zhi, Xiong Hui, Wang Xiao-zhu, Wang Shuo, Luo Jing, Wang Jing-min, Jiang Yu-wu, Chang Xing-zhi, Pan Hong, Qi Jian-guang, Li Wan-zhen, Yuan Yun, Wu Xi-ru
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2010 Dec 18;42(6):661-6.
To improve the diagnosis and management of Duchenne/Becker muscular dystrophy(DMD/BMD).
Clinical features of 90 cases of DMD/BMD were collected. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes, and multiplex ligation-dependent probe amplification (MLPA) was applied to detect DMD gene to identify genetic mutation. For those patients whose deletion/duplication mutation was not identified, FKRP gene mutation analysis was performed using PCR-DNA direct sequence. All the cases were followed up.
Among the 90 cases of clinically diagnosed DMD/BMD, exons deletion of DMD was detected in 58 cases (64.44%), and exons duplication in 9 (10.00%). Among the 34 mothers with an affected boy but without previous genetic conformation, 17 were confirmed to be carriers with gene deletion/duplication. None of the 23 cases, without detected DMD gene deletion/duplication, carried FKRP gene mutation. Fourteen children were given short-term intermittent prednisone therapy (0.75 mg/kg daily during the first 10 days of each month). The course was not long enough and the sample size was too small to conclude any benefits or side effects. Prenatal diagnosis was provided for one mother in her next pregnancy detecting a female carrier fetus.
DMD gene deletions mainly occurs between exons 45 and 54, while duplications mostly at 5'-terminus. Identification of the characteristics and types of gene mutation may facilitate the recognition and prognosis prediction of DMD/BMD. MLPA is a non-complex and quick diagnostic tool for DMD/BMD and its carriers, and also helpful in genetic counseling.
改善杜氏/贝克型肌营养不良症（DMD/BMD）的诊断与管理。
收集90例DMD/BMD患者的临床特征。采用标准程序从外周血白细胞中提取基因组DNA，应用多重连接依赖探针扩增（MLPA）检测DMD基因以鉴定基因突变。对于未鉴定出缺失/重复突变的患者，采用PCR-DNA直接测序法进行FKRP基因突变分析。所有病例均进行随访。
在90例临床诊断为DMD/BMD的病例中，检测到58例（64.44%）存在DMD基因外显子缺失，9例（10.00%）存在外显子重复。在34名有患病男孩但既往无基因确诊的母亲中，17名被确认为携带基因缺失/重复的携带者。在23例未检测到DMD基因缺失/重复的病例中，均未携带FKRP基因突变。14名儿童接受了短期间歇性泼尼松治疗（每月前10天每日0.75 mg/kg）。疗程不够长且样本量太小，无法得出任何益处或副作用的结论。为一名母亲在其下次妊娠中检测到女性携带者胎儿提供了产前诊断。
DMD基因缺失主要发生在外显子45和54之间，而重复大多发生在5'端。鉴定基因突变的特征和类型可能有助于DMD/BMD的识别和预后预测。MLPA是一种用于DMD/BMD及其携带者的简便快速的诊断工具，也有助于遗传咨询。
