Molecular diagnosis of duchennemuscular dystrophy by multiplexpolymerase chain reaction

ABSTRACT

Duchenne or Becker muscular dystrophy [DMD/BMD] is one of the most common X-linked lethal genetic diseases with a worldwide frequency of one in 3500 live male births. The Dmd locus is, the largest human gene known, span 2.4 Mb in Xp21. It consists of 79 exons that encode a14 Kb transcript. We have investigated the frequency of deletion in the Dmd gene in 37 unrelated Duchenne muscular dystrophy [DMD] Egyptian patients. All patients were screened for 21 exonic deletion which pro-posed by Multicenter Study Group. The screening of deletion was done using single strand conformation polymorphism [SSCP] after multiplex PCR. The most common exonic deletion in our study are exon 48 [46 %],exons-19, 45 [37.8 % of each] followed by exons-43 [ 29.7 %], PM, 44, 47,and 50 [27 %]. The overall deletion in our study about 83.8% in DMD. Deletions were clustered at two spots 76 % at the hot spot in the distal region of the gene and 24 % at the hot spot in the proximal region of the gene. The multiplex PCR is simple, reliable and rapid technique for detection of carrier in families with DMD