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

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

Received August 24, 1988; Revised and Accepted October 28, 1988 | Jeffrey S. Chamberlain*, Richard A. Gibbs1, Joel E. Ranier1, Phi Nga Nguyen1,2 and C. Thomas Caskey1,2
The article describes a method for detecting deletions in the Duchenne muscular dystrophy (DMD) gene using multiplex DNA amplification. The study was conducted by researchers at Baylor College of Medicine and involved isolating and sequencing several deletion-prone exons from the DMD gene. The researchers developed a rapid method capable of detecting the majority of deletions in the DMD gene, which is a common cause of DMD. This method involves simultaneous amplification of multiple widely separated sequences from the genome, allowing for deletion scanning at any hemizygous locus. The technique was demonstrated for prenatal and postnatal diagnosis of DMD. The study highlights the limitations of Southern analysis for DMD diagnosis, including the need for multiple Southern blots and the use of radioisotopes. The PCR method offers a faster, more efficient alternative, allowing for the detection of deletions in a single reaction. The method was tested on DNA samples from male DMD patients and was found to detect deletions in 70% of cases. The technique was also applied to prenatal diagnosis, with successful detection of deletions in amniotic fluid cells and chorionic villus specimens. The study also discusses the potential of multiplex amplification for other genetic disorders and the advantages of this method over traditional Southern analysis, including time savings, reduced labor, and lower costs. The researchers conclude that multiplex amplification is a promising tool for DMD diagnosis and other genetic conditions.The article describes a method for detecting deletions in the Duchenne muscular dystrophy (DMD) gene using multiplex DNA amplification. The study was conducted by researchers at Baylor College of Medicine and involved isolating and sequencing several deletion-prone exons from the DMD gene. The researchers developed a rapid method capable of detecting the majority of deletions in the DMD gene, which is a common cause of DMD. This method involves simultaneous amplification of multiple widely separated sequences from the genome, allowing for deletion scanning at any hemizygous locus. The technique was demonstrated for prenatal and postnatal diagnosis of DMD. The study highlights the limitations of Southern analysis for DMD diagnosis, including the need for multiple Southern blots and the use of radioisotopes. The PCR method offers a faster, more efficient alternative, allowing for the detection of deletions in a single reaction. The method was tested on DNA samples from male DMD patients and was found to detect deletions in 70% of cases. The technique was also applied to prenatal diagnosis, with successful detection of deletions in amniotic fluid cells and chorionic villus specimens. The study also discusses the potential of multiplex amplification for other genetic disorders and the advantages of this method over traditional Southern analysis, including time savings, reduced labor, and lower costs. The researchers conclude that multiplex amplification is a promising tool for DMD diagnosis and other genetic conditions.
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