1.Objective To establish a specific technique for diagnosing and classifying Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD) and neurologic dystrophy. Methods Forty-seven cases were detected by immunofluorescence technique for analyzing dystrophin located in skeletal muscle cell membrane with the use of mouse monoclonal antibodies, goat and rabbit polyclonal antibodies.
目的 采用免疫荧光技术对 Duchenne型肌营养不良症 (Duchenne muscular dystrophy,DMD) ,Becker型肌营养不良症 (Becker muscular dystrophy,BMD) ,面肩肱型肌营养不良症(facioscapulohumeral muscular dystrophy,FSHD)以及神经性肌萎缩患者骨骼肌细胞膜的 dystrophin蛋白进行检测 ,为临床诊断、分类肌营养不良症提供简便的实验方法。
2.According to the extent of structural change and functional incapacitation of dystrophin, PMD can be divided into two types: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD is more frequent, with the incidence about 1/3500 viable birth male infant.
根据dystrophin空间结构改变和功能丧失程度不同，PMD可分为Duchenne型肌营养不良(Duchenne muscular dystrophy，DMD)和Becker型肌营养不良(Becker muscular dystrophy，BMD)两型，其中DMD是最常见的类型，发病率约为1／3500活产男婴。
3.Duchenne muscular dystrophy(DMD)is a fatal,genetic neuromuscular disorders that manifests as progressive muscle wasting. Although there has been enormous progress in the studies of the molecular mechanism of muscular dystrophy,there is still no cure.
Duchenne型肌营养不良症(Duchenne muscular dystrophy,DMD)表现为进行性肌肉萎缩,是一种致死性、遗传性神经肌肉疾病。
4.Objective To explore the relationship between electrophysiological changes, clinical phenotype and genotype in Duchenne and Becker muscular dystrophy(DMD/BMD), to address the expression and roles of dystrophin and its isoforms on the retina, and to inquire into the molecular mechanism of the abnormal electroretinogram(ERG) on DMD/BMD patients with different genotype.
目的 研究进行性肌营养不良 (Duchenne/ Becker muscular dystrophy,DMD/ BMD)患者视网膜眼电图 (electroretinogram,ERG)表型与临床分型以及基因型的关系 ,进一步探讨不同基因型的 DMD患者抗肌营养不良蛋白 (dystrophin)及其同源蛋白在视网膜上的表达及功能 ,揭示 DMD出现 ERG异常的分子机理。
5.Objective To set up a fluorescent in situ hybridization(FISH) based method to detect the gene-deleted female carriers of Duchenne/Becker muscular dystrophy (DMD/BMD).
目的 建立应用荧光原位杂交 (fluorescent in situ hybridization,FISH)方法检查进行性假肥大性肌营养不良 (Duchenne/ Becker muscular dystrophy,DMD/ BMD)患者家系中女性亲属是否为携带者的方法。
6.Objective To investigate the feasibility of multiple displacement amplification(MDA) to apply in the non-invasive prenatal genetic diagnosis of Duchenne muscular dystrophy (DMD).
目的探讨多重置换扩增(multiple displacement amplification,MDA)方法应用到杜氏肌营养不良(Duchenne muscular dystrophy,DMD)的无创性产前基因诊断中的可行性。
7.Objective This paper was designed to investigate the feasibility of non invasive prenetal diagnosis of Duchenne muscular dystrophy(DMD).
目的 探讨杜氏肌营养不良症 (Duchenne muscular dystrophy,DMD)的无创性产前基因诊断的可行性。
8.Duchenne Mucular Dystrophy is one of the recessive geneticdisorders by X linkaged in neuromuscular system. DMD is the mostcommon and severe Muscular dystrophy in children. Diagnose on DMD depends on clinical symptoms, history offamilial inheritance, enzymology alteration, electromyogram andmuscular biopsy.
假肥大型进行性肌营养不良症(Duchenne Muscular DystrophyDMD)又称Duchenne型肌营养不良症,是一种X连锁隐性遗传病,临床上DMD患者主要表现为全身骨骼肌进行性萎缩无力,是最常见的遗传性肌病之一,目前尚无有效的治疗方法。
9.Objective To study the exons deletion mechanisms for dystrophin gen e, the molecular characters of breakpoints of junction fragments for deletion-t y pe Duchenne muscular dystrophy (DMD) patients with 46 and 51 exons deletion were compared and analyzed.
目的 对比分析缺失型杜氏肌营养不良症 (Duchenne muscular dystrophy,DMD)缺失热区第 46号和 51号外显子缺失后形成的连接片段的断裂点的分子结构特点 ,以研究 DMD基因外显子的缺失机理。
10.A NEW APPROACH TO GENE DIAGNOSIS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY──AMPLIFIED FRAGMENT LENGTH POLYMORPHISM
A NEW APPROACH TO GENE DIAGNOSIS OF DUCHENNE／BECKER MUSCULAR DYSTROPHY──AMPLIFIED FRAGMENT LENGTH POLYMORPHISMS
