Impact of carrier status determination for Duchenne/Becker muscular dystrophy by computer-assisted laser densitometry.

Carrier status determination for Duchenne and Becker muscular dystrophies (D/BMD), disorders caused by mutations in the dystrophin gene at Xp21, is complicated by a number of factors. These include a high mutation rate and a 5-10% recombination frequency across the dystrophin gene. For these reasons, linkage analysis frequently gives an inconclusive result, and a direct mutation detection method for females at risk is desirable.