SCREENING 25 DYSTROPHIN GENE EXONS FOR DELETIONS IN ARAB CHILDREN WITH DUCHENNE MUSCULAR-DYSTROPHY

Forty-two Arab children with Duchenne muscular dystrophy (DMD) were st udied for intragenic deletions in 25 exons of the dystrophin gene usin g three different multiplex PCR sets each amplifying a total of 9, 9 a nd 6 different exons, respectively. Exon 22 was amplified individually . Deletions were found in 78, 76 and 12% of DMD patients with each of the three sets, respectively. With all the three sets, the detection r ate increased to 86% (36 of 42 patients). Fifty percent of the deleted exons were located in the distal hot spot, 8% in the proximal hot spo t while 42% were scattered over both. This study, the first in an Arab population and only the second to use three PCR multiplex sets, docum ents one of the highest deletion detection rates in DMD.