Detection of mutant dystrophin gene carrier using quantitative Polymerase Chain Reaction
Journal of Medical Research
;
: 1-10, 2008.
Article
in Vietnamese
| WPRIM
| ID: wpr-775
ABSTRACT
Background:
Deletion and duplication mutations of dystrophin gene make up from 70 to 75% of patients with Duchenne Muscular Dystrophy (DMD). Two thirds of children with DMD inherited from the heterozygous mothers the mutated gene which is located on one of the sex chromosomes.Objective:
To detect the asymptomatic carriers of dystrophin gene mutation using molecular techniques. Subject andmethods:
3 DMD patients and their 9 relatives. Using techniques DNA extraction and quantitative Polymerase Chain Reaction (PCR).Results:
Successfully detected 4 heterozygous individuals from 9 female members of three different families that have already confirmed DMD patients.Conclusion:
This method could lead to a new way of prenatal diagnosis of DMD as well as other genetic disorders that are caused by deletion or duplication mutation.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Muscular Dystrophy, Duchenne
Type of study:
Diagnostic study
Language:
Vietnamese
Journal:
Journal of Medical Research
Year:
2008
Type:
Article
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