Use of DNA probes in detecting carriers of Duchenne muscular dystrophy: selected case studies.

摘要: Detection of Duchenne muscular dystrophy carriers by genetic analysis is illustrated four case studies. The technique most useful in obligate families, excluding carrier status isolated cases, and families which the affected child demonstrates a molecular deletion. A major limitation this that accuracy (i.e., no family history) cases limited probability may represent new mutation. To improve risk estimate generated DNA data, particularly we suggest measuring creatine kinase activities serum performing on nonaffected males be helpful.