Molecular Markers for Myoblast Transplantation in GRMD

Abstract

Golden retriever muscular dystrophy (GRMD) has been proposed to be an animal model for Duchenne muscular dystrophy (DMD) (Kornegay et al., 1989). We have been studying GRMD to determine the underlying defect in this model using methodology and cDNA probes developed for the study of DMD (Koenig et al., 1987). Observed molecular differences between normal and affected animals may be useful for monitoring myoblast transfer in this model similar to what Ron Worton proposed as a means of defining tissue-specific markers for myoblast transplantation in DMD families (Worton reference this book). To illustrate the potential use of these markers of transplantation, an example of a human pedigree with a restriction fragment polymorphism which differs between individuals is illustrated in Figure 1. In this particular pedigree, there are two patients with deletions. Two potential markers would be useful for testing persistence of donor myoblasts after transplantation. The molecular markers in this case would be the presence of the deleted portion of the gene found in normal donor myoblasts, and if the donor was a non-carrier female, a gene dosage analysis which discriminates between the relative dosage of the X and Y-specific sequences would identify the donor cells.