Harper P S, Thomas N S
Am J Med Genet. 1986 Dec;25(4):687-702. doi: 10.1002/ajmg.1320250411.
New molecular developments in our understanding of Duchenne and Becker muscular dystrophies are affecting the practical approach to genetic counseling, carrier detection, and prenatal prediction for these disorders. A plan of an investigation combining DNA and conventional techniques is outlined that is suitable for centers not actively engaged in molecular genetics research, based on the detection of molecular deletions, the most efficient use of multiple DNA polymorphisms, and the integration of this data with creatine kinase and pedigree information. Such an approach now allows accurate carrier detection for most women at risk as well as an acceptable degree of accuracy in prenatal detection for a proportion of carrier women.
我们对杜兴氏和贝克氏肌肉营养不良症理解上的新分子进展，正在影响针对这些疾病的遗传咨询、携带者检测和产前预测的实际方法。本文概述了一项结合DNA和传统技术的研究计划，该计划适用于未积极从事分子遗传学研究的中心，其基础是检测分子缺失、最有效地利用多个DNA多态性，以及将这些数据与肌酸激酶和家系信息相结合。这种方法现在能够为大多数有风险的女性进行准确的携带者检测，同时也能为一部分携带者女性提供可接受程度的产前检测准确性。
