DIRECT-DETECTION OF EXPANDED (CAG CTG) REPEATS IN THE MYOTONIN-PROTEIN KINASE GENES OF MYOTONIC-DYSTROPHY PATIENTS USING A HIGH-STRINGENCY HYBRIDIZATION METHOD/

Recent discoveries of genes containing (CAG/CTG) repeats as the causat ive genes for neuromuscular diseases suggest that trinucleotide repeat expansions are associated with a number of other neurodegenerative di seases, particularly in those showing genetic anticipation. In order t o efficiently identify expanded trinucleotide repeats, we have develop ed a novel method using a single-stranded probe containing (CAG)(55), which allows direct detection of expanded (CAG/CTG) repeats in the myo tonin-protein kinase (Mt-PK) genes of patients with myotonic dystrophy without the need for any prior information of chromosomal localizatio ns of the disease genes. This method is expected to be useful for iden tifying novel genes for diseases associated with expanded (CAG/CTG) re peats. (C) 1995 Academic Press, Inc.