Direct Deletion Analysis in Two Duchenne Muscular Dystrophy Symptomatic Females Using Polymorphic Dinucleotide (CA)n Loci within the Dystrophin Gene

Duchenne muscular dystrophy (DMD) is the mostcommon hereditary neuromuscular disease. It is inheritedas an X-linked recessive trait in which males show clinicalmanifestations. In some rare cases, the disease can also bemanifested in females. The aim of the present study was todetermine the molecular alteration in two cases of non-related DMD symptomatic carriers with no previoushistory of DMD. Multiplex PCR is commonly used tosearch for deletion in the DMD gene of affected males. Thismethod could not be used in females because the normal Xchromosome masks the deletion of the mutated one.Therefore, we used a set of seven highly polymorphicdinucleotide (CA)