Detection of mutant dystrophin gene carrier using quantitative Polymerase Chain Reaction

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.