论文部分内容阅读
作者综述了１０年来对Ｄｕｃｈｅｎｎｅ型肌营养不良症（ＤＭＤ）的研究概况。主要包括①ＤＭＤ的临床研究。②血清生化研究表明ＣＫ、ＬＤＨ、Ｍｂ是诊断ＤＭＤ病人和携带者的敏感指标。③心脏无创性检测和肌肉超微结构研究。④部分抗肌萎缩蛋白基因ＹＡＣ物理图谱，精细限制酶图谱和缺失热区的核苷酸顺序分析，首次发现内含子中ＡＴ富集区的同源顺序与ＤＭＤ断裂有关。⑤抗肌萎缩蛋白的缺失热区疏水肽段存在与否与ＤＭＤ发病密切相关。
The authors reviewed 10 years of research overview of Duchenne’s muscular dystrophy (DMD). Mainly include ① DMD clinical research. ② Serum biochemical studies have shown CK, LDH, Mb is a sensitive indicator of diagnosis of DMD patients and carriers. ③ heart noninvasive detection and muscle ultrastructure research. (4) Nucleotide sequence analysis of some dystrophin gene YAC physical map, fine restriction enzyme map and deletion hot region revealed that the homologous sequence of AT-rich region in intron was found to be related to DMD. ⑤ the absence of dystrophin hot zone Hydrophobic peptide presence or not and the incidence of DMD are closely related.