The quantitative analysis of protein particles of erythrocyte membrane from Duchenne muscular dystrophy patients and the gene carriers.
- Author:
Zhi-lin HONG
1
;
Shen-xing MURONG
;
Xiu-rong ZHONG
;
Min-ting LIN
;
Wen-lie CHENG
;
Xi LIN
;
Ning WANG
Author Information
- Publication Type:Journal Article
- MeSH: Erythrocyte Membrane; metabolism; ultrastructure; Female; Heterozygote; Humans; Male; Membrane Proteins; metabolism; Microscopy, Electron; Muscular Dystrophy, Duchenne; diagnosis; genetics; metabolism
- From: Chinese Journal of Medical Genetics 2004;21(1):68-69
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the changes of the intramembrane protein particles of erythrocyte from Duchenne muscular dystrophy (DMD) patients and the gene carriers and to explore the pathogenesis of DMD and the diagnostic value of erythrocyte freeze-fracture technology.
METHODSThe fixed erythrocyte mass was treated to form replica membrane by means of the freeze-fracture technology. Then the replica membrane was observed and a picture was taken under electron microscope. The protein particles of extracellular face(EF) and protoplasmic face(PF) per square were counted. The statistical comparative analysis was performed.
RESULTSThe protein particle counts of EF face and PF face of erythrocyte membrane from DMD patients and DMD carriers decreased obviously in comparison with the normal control group (P<0.001).
CONCLUSIONThe erythrocyte freeze-fracture electron microscopic technology may serve as a method for accessory examination of diagnosing DMD patients and a method for detecting DMD carriers. This investigation material supplies reliable evidence for the theory of the systemic membrane defect of DMD.