TY - JOUR
T1 - A model for molecular screening of newborns
T2 - Simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis
AU - Prior, Thomas W.
AU - Edward Highsmith, W.
AU - Friedman, Kenneth J.
AU - Perry, Tenly R.
AU - Scheuerbrandt, Günter
AU - Silverman, Lawrence M.
PY - 1990
Y1 - 1990
N2 - 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.
AB - 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.
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M3 - Article
C2 - 2208650
AN - SCOPUS:0025107352
SN - 0009-9147
VL - 36
SP - 1756
EP - 1759
JO - Clinical chemistry
JF - Clinical chemistry
IS - 10
ER -