Status of Calpain In gene deleted carriers of Duchenne Muscular Dystrophy (DMD).

ABSTRACT

Though DNA testing gives precise diagnosis, molecular heterogeneity of disease makes testing an elaborate effort in Duchenne Muscular Dystrophy (DMD) in spite of the fact that 60°% of the cases are caused by deletions. The molecular diagnosis of carriers is elaborate needing quantitation of amplifed exonic products. Use of polymorphic markers for other mutations are also involved. We had reported in a large pedigree of DMD with one exonic deletion, the status of calpain by ELISA, CPK and deletion assessed by quantitative PCR (QPCR) in mothers and female siblings. The results pointed to the fact that calpain test is positive in true carriers (showing gene deletion). Status of catpain was assessed in many unrelated female members of DMD families carrying other exonic deletions, which was positive to calpain changes in true carriers.