IDENTIFICATION OF DELETION CARRIERS IN DUCHENNE BECKER MUSCULAR-DYSTROPHY FAMILIES USING A DIGOXIGENIN-LABELED QUANTITATIVE POLYMERASE-CHAIN-REACTION TECHNIQUE/

Background: A quantitative polymerase chain reaction (PCR) technique b ased on the incorporation of digoxigenin (DIG), and visualization of t he labeled fragments for the detection of deletion carriers in Duchenn e/Becker muscular dystrophy families has been developed. Methods and R esults: Sixty-five DNA samples taken from mothers and/or sisters of fa milial and sporadic deletion patients were investigated in the exponen tial phase of amplification. All obligate carriers were correctly iden tified using this technique. In more than 95% of deletion families. po ssible carriers could be screened by using four different multiplex sy stems specifically designed to increase the efficiency of the detectio n. Deletions were found to be present in 42% of possible carriers. All these results were confirmed by computer-assisted laser densitometry. Conclusion: Dosage analysis by DIG-labeled quantitative PCR is a reli able and accurate technique for detecting Duchenne/Becker muscular dys trophy deletion carriers.