title: Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients.
abstract: BACKGROUND
  Deletions of single or multiple exonic regions within the dystrophin gene can be detected using current molecular methods in approximately 65% of the patients with X-linked recessive neuromuscular disorder, Duchenne/Becker muscular dystrophy (DMD/BMD). Population-based variations in frequency and distribution of dystrophin gene deletions have been reported in DMD/BMD patients. In the present study, the first in the Pakistani population, frequency and distribution of deletions of 18 exons clustered in two hot spots within the dystrophin gene in 211 unrelated DMD patients were analyzed.
  
  
  METHODS
  A total of 211 patients suffering from DMD were ascertained, and intragenic deletions within the dystrophin gene were detected on polymerase chain reaction amplification of the genomic DNA using 18 primer sets clustered within two major deletion hot spots. lovd v.1.1.0 software from the Leiden Muscular Dystrophy website has been used to predict in-frame and out-of-frame deletions.
  
  
  RESULTS
  Intragenic deletions were detected in 86 patients (40.75%): 35 patients (40.69%) had deletions within the proximal hot spot, and 51 patients (59.30%) had deletions confined to the distal deletion hot spot of the dystrophin gene. The most frequently deleted exons were 50, 6, 47, 13 and 52 with deletion frequencies of 15.11%, 12.79%, 10.46%, 8.13%, and 4.65%, respectively. lovd v.1.1.0 predicted out-of-frame deletions in 67 DMD patients and in-frame deletions in 19 DMD patients.
  
  
  CONCLUSIONS
  The observed proportion of intragenic deletions in the Pakistani population is relatively low, which is comparable with most of the Asian data. Also, deletions in 67 patients (77.9%) are in agreement with the frame-shift rule.
authors: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors: Muhammad J
authors: MJ
authors: Hassan
authors: Saqib
authors: S
authors: Mahmood
authors: Ghazanfar
authors: G
authors: Ali
authors: Nazia
authors: N
authors: Bibi
authors: Ishrat
authors: I
authors: Waheed
authors: Muhammad A
authors: MA
authors: Rafiq
authors: Muhammad
authors: M
authors: Ansar
authors: Wasim
authors: W
authors: Ahmad
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D016000:Cluster Analysis; D015331:Cohort Studies; D016189:Dystrophin / Q000235:genetics*; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000208:ethnology* / Q000235:genetics*; D010154:Pakistan / Q000453:epidemiology
chemical_list: D016189:Dystrophin