تشخیص مولکولی ناقلین بیماری دیستروفی عضلانی دوشن در خانواده‌های مشکوک، با استفاده از نشانگرهای ریزماهواره‌ای

Background and Objective: Duchenne Muscular Dystrophy(DMD) is a neuromuscular disorder with progressive muscle wasting and weakness. This disease is the consequence of mutations in dystrophin gene located on X chromosome. Inheritance pattern of the disease is gene-dependent recessive with an incidence of one in 3500 alive male newborns. Due to the absence of efficient treatment, detection of female carriers is essential for genetic counselling and prenatal diagnosis. Materials and Methods: 14 DMD families were referred to the genetic laboratory by specialists. DNA was extracted from the whole peripheral blood and analyzed by gene tracking technique. All members of the families were studied through 7 microsatellites located in and around dystrophin gene. Results: 37 females at the risk of being DMD carriers and 7 obligate carriers were studied and ultimately 27 females (72.97 %) were identified as carriers or non-carriers. Conclusion: In the families who were diagnosed as DMD patients by clinical and preclinical procedureۥs gene tracking is a reliable and less expensive technique for female carrier-status identification with a 95-100% confidence.