Ishii K, Sakuraba H, Minamikawa-Tachino R, Shimmoto M, Suzuki Y
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Brain Dev. 1992 Mar;14(2):80-3. doi: 10.1016/s0387-7604(12)80090-8.
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.
开发了一种通过定量肌营养不良蛋白基因缺失分析的改进方法，用于检测杜兴氏/贝克氏肌营养不良症（DMD/BMD）携带者。对于女性家庭成员，在聚合酶链反应的指数期，扩增在DMD先证者中发现缺失的外显子52，并将外显子60作为对照一同扩增。产物通过电泳分离，对凝胶照片上的条带强度进行定量，并计算靶标/对照比率。三位杂合子母亲的值约为正常个体和两位明确非杂合子母亲的一半。该方法简便、快速，对DMD/BMD携带者诊断很有用。
