2 POLYMORPHIC DINUCLEOTIDE REPEATS IN INTRON-44 OF THE DYSTROPHIN GENE

Duchenne muscular dystrophy (DMD) is one of the most common and severe X-linked disorders with an incidence of approximately 1 in 3500 newbo rn males. In more than 60% of DMD patients, deletions of part or all o f the dystrophin gene have been shown. Despite this, carrier detection still poses a problem in some cases, because of the enormous size of the gene and the lack of sufficient numbers of informative markers. He re, we report the isolation and characterization of two additional mic rosatellite markers (IVS44SK12 and IVS44SK21) in intron 44 of the dyst rophin gene. Both markers are useful for carrier detection either by i ndirect DNA analysis or by direct proof of loss of heterozygosity.