Nucleic Acids Research, 1988, Vol. 16, No. 23 11141-11156
© 1988
MOLECULAR BIOLOGY |
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
1Institute for Molecular Genetics, Baylor College of Medicine Houston, TX 77030, USA 2Institute for Howard Hughes Medical institute, Baylor College of Medicine Houston, TX 77030, USA
Received August 24, 1988. Revised October 28, 1988. Accepted October 28, 1988.
The application of recombinant DNA technology to prenatal diagnosis of many recessively inherited X-linked diseases is complicated by a high frequency of heterogenous, new mutations (1). Partial gene deletions account for more than 50% of Duchenne muscular dystrophy (DMD)) lesions, and approximately one-third of all cases result from a new mutation (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 simultaneous genomic DNA smplification of multiple widely separated sequences and should permit deletion scanning at any hemizygous locus. We demonstrate the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD.
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