Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy

A variety of molecular techniques can be employed to determine carrier status in Duchenne/Becker muscular dystrophy (DMD/BMD). Some of these are described in other chapters of this book, and include linkage analysis using restriction fragment length polymorphism or CA repeats, single-strand conformational polymorphism (heteroduplex analysis, quantitative polymerase chain reaction (PCR), and fluorescence-based detection and direct point mutation analysis (see Chapters 5 , 6 , and 7 ). This chapter describes a method for fluorescence in situ hybridization (FISH) analysis that provides a simple method for carrier detection in families known to have a dystrophin deletion.