title: Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products.
abstract: An improved method by quantitative dystrophin gene deletion analysis was developed for the detection of Duchenne/Becker muscular dystrophy (DMD/BMD) carriers. Exon 52, which had been found to be deleted in DMD probands, was amplified for female family members, together with exon 60 as a reference, at the exponential phase of polymerase chain reaction. The products were separated by electrophoresis, the band intensities on gel photographs were quantitated, and the target/control ratios were calculated. The values for three heterozygous mothers were approximately half those for normal individuals and two definite non-heterozygous mothers. This procedure is easy, rapid and useful for the carrier diagnosis of DMD/BMD.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ishii
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: R
authors.initials: R
authors.lastname: Minamikawa-Tachino
authors.forename: M
authors.initials: M
authors.lastname: Shimmoto
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D001483:Base Sequence; D003936:Diagnosis, Computer-Assisted; D005091:Exons; D005260:Female; D005784:Gene Amplification; D006580:Genetic Carrier Screening; D006801:Humans; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction