A model for molecular screening of newborns: simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis.
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.
Department of Pathology, Ohio State University, Columbus 43210.
T W
TW
Prior
W E
WE
Highsmith
K J
KJ
Friedman
T R
TR
Perry
G
G
Scheuerbrandt
L M
LM
Silverman
D001483:Base Sequence; D001801:Blood Stains; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005804:Genes, Lethal; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction