Dystrophin detection by immunofluorescent technique for diagnosing muscular dystrophy.
- Author:
Xun WANG
1
;
Youmei XIE
;
Cheng ZHANG
;
Zhuoling LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Dystrophin; analysis; Female; Fluorescent Antibody Technique; methods; Humans; Male; Muscle, Skeletal; chemistry; pathology; Muscular Dystrophies; diagnosis; metabolism; Muscular Dystrophy, Duchenne; diagnosis; metabolism; Muscular Dystrophy, Facioscapulohumeral; diagnosis; metabolism; Neuromuscular Diseases; diagnosis; metabolism
- From: Chinese Journal of Medical Genetics 2002;19(3):239-242
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo establish a specific technique for diagnosing and classifying Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD) and neurologic dystrophy.
METHODSForty-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.
RESULTSThe normal individuals showed ringed positive staining stripe around muscle fibers. Negative result of staining was seen in 16 DMD patients. Eleven BMD patients had discontinuous or a patchy positive staining pattern, and all of 10 FSHD and 10 neurological amyotrophic patients showed positive dystrophin staining.
CONCLUSIONDetecting dystrophin in the skeletal muscle cell membrane of muscular patients is an efficient technique for diagnosing and classifying various types of muscular dystrophy.
