Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

Hentemann, M., Reiss, J., Wagner, M. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1990. Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences. Human Genetics 84 (3) , pp. 228-232. 10.1007/BF00200564

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Abstract

Using the polymerase chain reaction (PCR) technique, we have screened the DNA of 42 patients with Duchenne or Becker muscular dystrophy for deletions within the DMD gene. Two regions within putative deletion “hot spots” of this gene were tested, and deletions were found in 16.6% of patients. The oligonucleotide primers employed in this study initiate the amplification of exon sequences and were used to test the suitability and reliability of PCR in deletion screening and prenatal diagnosis using various numbers of cycles and artificial contamination ratios. We compared our approach with both “multiplex DNA amplification” and Southern blot analysis. A comparative evaluation of currently available techniques is presented.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:21
URI:	https://orca.cardiff.ac.uk/id/eprint/62060

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