EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY

Abstract

Deletions in the gene sequence for Duchenne (DMD) and Becker (BMD) muscular dystrophy were detected in affected males with four cDNA probes, Cf 56a, Cf 23a, Ca1A, and Cf 27. Most of the deletions were seen with only one of the probes. Cf 23a detected all BMD deletions seen with Cf 56a and some that were not. The same markers also detected restriction fragment length polymorphisms for those cases where deletions were not evident. The probes were also used successfully for prenatal diagnosis in two families each with two DMD affected males. In DMD families successive application of probes Cf 56a, Ca1A, and Cf 27 will give a 70% chance of detecting the mutation. BMD families should first be screened with the Cf 23a probe.