Investigating one case of deletion of 27 exons espanding at rod domain of dystrophin gene in a Duchenne Muscular Dystrophy
- Author:
Tran Van Khanh
- Publication Type:Journal Article
- Keywords:
Duchene Muscular Dystrophy
- MeSH:
Muscular Dystrophy, Duchenne;
Dystrophin;
Genes
- From:Journal of Vietnamese Medicine
2005;309(4):23-28
- CountryViet Nam
- Language:Vietnamese
-
Abstract:
A majority deletion of 27 exons expanding from 8-34 at rod domain of dystrophic gene was identified in a Duchene Muscular Dystrophy (DMD) patients. Polymerase chain reaction (PCR) was used to analyze the deletion. The deletion caused an out of frame mutation leading to nonsense mutation which early stops code in exon 35 of dystrophic gene. The DMD gene was analyzed at both genomic DNA and mRNA levels. Identification of deletion at mRNA level is very useful for rapid diagnosis of DMD patients and avoid missing some mutations that we can’t identify at DNA level
