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

T. W. Prior, W. E. Highsmith, K. J. Friedman, T. R. Perry, G. Scheuerbrandt, L. M. Silverman

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1756-1759
Number of pages4
JournalClinical chemistry
Volume36
Issue number10
DOIs
StatePublished - 1990

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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    Prior, T. W., Highsmith, W. E., Friedman, K. J., Perry, T. R., Scheuerbrandt, G., & Silverman, L. M. (1990). A model for molecular screening of newborns: Simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis. Clinical chemistry, 36(10), 1756-1759. https://doi.org/10.1093/clinchem/36.10.1756