摘要
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。
tudies on Duchenne muscular dystrophy during the past 10 years are briefly reviewed. Maninly included:(1)Clinical studies on DMD. (2)The sensitivty of serum CK. LDH. Mb in diagnosing DMD patients and the carriers. (3)Studies on the heart with noninvasive method and on the ultrastructure of the muscle with electron microscope。 (4) By analysing the yeast artifical chromosome physical map, fine restricted enzyme map in partial dystrophin gene, and the DNA sequence of the deletion hot spot in the dystrophin gene , the relationship between the homologous sequences of AT hases rich - region in the intron and DNA deletion firstly discovered. ( 5 ) The deletion hot spot hydrophobic peptide present or not closely related to DMD.
出处
《中山医科大学学报》
CSCD
1994年第1期1-6,共6页
Academic Journal of Sun Yat-sen University of Medical Sciences
关键词
肌营养障碍
抗肌萎缩蛋白
Duchenne muscular dystrophy
CK
LDH
Mb
YAC physical map
fine re- stricted enzyme map
DNA sequence analysis
dystrophin
