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Clinical Chemistry 36: 1756-1759, 1990;
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Clinical Chemistry, Vol 36, 1756-1759, Copyright © 1990 by American Association for Clinical Chemistry

A model for molecular screening of newborns: simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis

TW Prior, WE Highsmith Jr, KJ Friedman, TR Perry, G Scheuerbrandt and LM Silverman
Department of Pathology, Ohio State University, Columbus 43210.

Gene mutations responsible for the majority of Duchenne/Becker muscular dystrophy (DMD/BMD) and cystic fibrosis (CF) chromosomes have been identified. We describe a DNA-based strategy, rather than the traditional biochemical assays, for screening newborns. DNA sequences spanning the CF mutation and several DMD/BMD deletion-prone exons are amplified simultaneously via a multiplex polymerase chain reaction. The gel is visually inspected for DMD/BMD deletions and then blotted and hybridized with allele-specific oligonucleotides to determine the presence or absence of the CF mutation. We determined that blood spots provide sufficient DNA for the molecular analysis, so the procedure can be used in screening programs of newborns.


The following articles in journals at HighWire Press have cited this article:


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 Am J Trop Med HygHome page
S. BERECZKY, A. MARTENSSON, J. P. GIL, and A. FARNERT
SHORT REPORT: RAPID DNA EXTRACTION FROM ARCHIVE BLOOD SPOTS ON FILTER PAPER FOR GENOTYPING OF PLASMODIUM FALCIPARUM
Am J Trop Med Hyg, March 1, 2005; 72(3): 249 - 251.
[Abstract] [Full Text] [PDF]


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