DNA SEQUENCES AND MATERIALS AND METHODS FOR THE DIAGNOSIS OF MYOTONIC DYSTROPHY

摘要

A variable length DNA sequence has been detected in patients with myotonic dystrophy (DM). The variable length region contains a number of repeats of a three-base unit (CTG). The number of repeats in DM patients is found to exceed 50 whereas unaffected individuals were found to have less than 40 repeats. DM risk diagnosis may be carried out by detecting the length of the variable region and thereby determining the number of repeats.