title: Screening 25 dystrophin gene exons for deletions in Arab children with Duchenne muscular dystrophy.
abstract: Forty-two Arab children with Duchenne muscular dystrophy (DMD) were studied for intragenic deletions in 25 exons of the dystrophin gene using three different multiplex PCR sets each amplifying a total of 9, 9 and 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 rate 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 spot while 42% were scattered over both. This study, the first in an Arab population and only the second to use three PCR multiplex sets, documents one of the highest deletion detection rates in DMD.
authors.affiliation: Paediatrics Department, Faculty of Medicine Kuwait University, Safat. haider@hsc.kuniv.edu.kw
authors.forename: M Z
authors.initials: MZ
authors.lastname: Haider
authors.forename: L
authors.initials: L
authors.lastname: Bastaki
authors.forename: Y
authors.initials: Y
authors.lastname: Habib
authors.forename: A
authors.initials: A
authors.lastname: Moosa
mesh_terms: D018912:Arabs / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009136:Muscular Dystrophies / Q000208:ethnology / Q000235:genetics*
chemical_list: D016189:Dystrophin