Abstract
Background and Objectives: Duchenne muscular dystrophy is a neuromuscular disorder with progressive muscle wasting and weakness. This disease is consequence of mutations in dystrophin gene located on X chromosome and its inheritance pattern is X-linked recessive. The incidance of this disease is one out of 3500 alive male newborns. In the absence of efficient treatment, detection of female carriers for genetic counseling and prenatal diagnosis is essential.
Materials and Methods: Sixteen DMD families were referred to the laboratory by neurologists. DNA was extracted from the whole peripheral blood and was analyzed by gene tracking technique. All members of the families were studied by using 7 microsatellites located in and around the dystrophin gene.
Results: forty three females at risk of being DMD carriers and 3 obligate carriers were studied and 29 (68.18%) female relatives were diagnosed as carriers or non-carriers.
Conclusion: In DMD families with deletion, gene tracking is a reliable technique for carrier-status identification with a 95-100% likelihood.