Use of the Polymerase Chain Reaction and Complementary DNA Probes in the Detection of Duchenne Muscular Dystrophy Carriers
AIR FORCE INST OF TECH WRIGHT-PATTERSON AFB OH
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Duchenne Muscular Dystrophy DMD is a lethal X-linked myopathy occurring in 1 in 3000 male births. The gene, which spans over 2.1 kilobases, has been identified and produces a protein designated dystrophin which is an integral component of the cytoskeletan of muscle membrane. In 50 to 60 of DMD males, the gene defect is a deletion which disrupts the reading frame and results in significantly reduced production or abnormal structure of dystrophin. The objective of the first phase of this research was to identify deletions in the dystrophin gene in DMD males using a polymerase chain reaction PCR procedure. In the PCR, specific oligonucleotides are used to selectively amplify target sites in the gene up to a million fold. In this protocol 9 unique oligonucleotide primers were used in a multiplex PCR to simultaneously amplify sites within the gene known to be deletion prone.
- Medicine and Medical Research