Detection of mutant dystrophin gene carrier using quantitative Polymerase Chain Reaction
- Author:
Suong Thi Bang Nguyen
;
Khanh Van Tran
;
Hoan Thi Nguyen
;
Ha Thi Nguyen
;
Van Thanh Ta
- Publication Type:Journal Article
- Keywords:
Duchenne muscular dystrophy;
carrier;
quantitative PCR
- MeSH:
Duchenne muscular dystrophy;
carrier;
quantitative PCR
- From:Journal of Medical Research
2008;59(6):1-10
- CountryViet Nam
- Language:Vietnamese
-
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 and methods: 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.
