Molecular Analysis of Duchenne Muscular Dystrophy (DMD) in Pakistani Patients and Carriers
Duchenne muscular dystrophy (DMD) is one of the most common human neuromuscular disorders. It is an Xlinked
recessive disease caused by a defective dystrophin (DMD) gene. Existing diagnostic assays for the dystrophin gene
comprise a range of methodologies which are relatively expensive. This study focuses on the investigation of genotypephenotype
correlation and DMD carrier status using a 16 exon quantitative multiplex PCR (MPCR) and gene dosage
analysis of the DMD carrier population in Pakistan. We analyzed nine patients from families with neuromuscular disorders
of which eight (90%) patients showed deletions in the two known hot-spots regions in the DMD gene. One patient and his
siblings showed no deletion in the DMD gene, suggesting an unrelated neuromuscular disorder. The carrier status of the
mothers of these DMD patients was also revealed by gene dosage analysis. A very significant feature of this research is the
use, for the first time, of a MPCR technique for DMD gene mutation analysis. Such an approach will be invaluable for
countries such as Pakistan where pre-natal diagnostic tests impose a significant economic burden.
Keywords - Duchenne Muscular Dystrophy; Multiplex PCR; Gene dosage analysis; Carrier status analysis.
Abbreviations - DMD, Duchenne Muscular Dystrophy; MPCR, Multiplex PCR; BMD, Becker Muscular Dystrophy; CK,
creatine kinase; qMPCR, Quantitative multiplex PCR.