DMD gene defection analysis in 135 patients with Duchenne muscular dystrophy
- VernacularTitle:135例Duchenne型肌营养不良症DMD基因缺失分析
- Author:
Yang YAN
;
Xiaofeng YANG
;
Fuhua YIN
;
Shengnan HUANG
- Publication Type:Journal Article
- Keywords:
DMD;
gene diagnosis;
PCR
- From:
Basic & Clinical Medicine
2006;0(08):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective Deletion detection of Duchenne muscular dystrophy(DMD).Methods Totally 135 patients were tested through polymerase reaction of amplification with 12 dystrophin exons,polyacrylamide gel electrophoresis make gene analysis.Results The deletion of different region was found in 54 patients.Conclusion The deletion region is concentrated in 45~53 exons,the deletion of 48 exons is the peak.