Author/Authors :
BARZEGAR، Mohammad نويسنده Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. , , Habibi، Parinaz نويسنده Pediatrician, Tabriz University of Medical Sciences, Tabriz, Iran. , , BONYADY، Mortaza نويسنده Center of excellence for biodiversity, Department of Molecular Medical Genetics, Faculty of Natural Sciences University of Tabriz, Tabriz, Iran , , TOPCHIZADEH، Vahideh نويسنده Physical Medicine & Rehabilitation Research Center, Tabriz University of Medical Sciences, Tabriz, Iran , , Shiva، Shadi نويسنده MD,Pediatrician, Tabriz University of Medical Sciences, Tabriz, Iran. ,
Abstract :
Objective
Duchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders
that both are the result of heterogeneous mutations in the dystrophin gene. The
frequency and distribution of dystrophin gene deletions in DMD/ BMD patients
show different patterns among different populations. This study investigates the
deletion rate, type, and distribution of this gene in the Azeri Turk population of
North West Iran.
Materials &Methods
In this study, 110 patients with DMD/ BMD were studied for intragenic deletions
in 24 exons and promoter regions of dystrophin genes by using multiplex PCR.
Results
Deletions were detected in 63 (57.3%) patients, and around 83% localized in the
mid-distal hotspot of the gene (on exons 44–52), 21 cases (33.3 %) with singleexon
deletions, and 42 cases (66.6%) with multi-exonic deletions. The most
frequent deleted exons were exon 50 (15 %) and exon 49 (14%). No deletion
was detected in exon 3.
Conclusion
This study suggests that the frequency and pattern of dystrophin gene deletions
in DMD/ BMD in the Azeri Turk population of North West Iran occur in the
same pattern when compared with other ethnic groups.
