Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

The application of recombinant DNA technology to prenatal diagnosis of many recesslvely inherited X-linked diseases is complicated by a high frequen-cy of heterogenous, new mutations (1). Partial gene deletions account for more than 50X of Duchenne muscular dystrophy (DMD) lesions, and approximately one-third of all cases result fron a new nutation (2-5). We report the isolation and DNA sequence of several deletion prone exons from the human DMD gene. We also describe a rapid method capable of detecting the majority of deletions in the DMD gene. This procedure utilizes sinultaneous genomic DNA amplification of multiple widely separated sequences and should permit dele-tion scanning at any hemizygous locus. We demonstrate the application of this Multiplex reaction for prenatal and postnatal diagnosis of DMD