The DMD gene was shown to be an extremely large gene, spanning more than 2000 kb of genomic DNA, composed of 79 exons that encoded a 14-kb transcript which was translated into a protein named dystropin (4).
Today several therapies (such as antisense oligonucleotides and antibiotics) are being applied according to the specific dystropin mutation, thus requiring accurate and complete molecular analysis.
The genes surrounding the GK gene, from telomere to centromere, are Xpter-interleukin 1 receptor accessory protein-like 1 (IL1RAPL1); nuclear receptor subfamily 0, group B, member 1 (NR0B1); GK, dystropin
(DMD); and ornithine carbamoyltransferase (OTC)-cent.
This has been used for genes such as dystropin
(30) or BRCA1 (31) because only a few exons may show deletions or duplications.
In muscle, the intracellular side of transmembranic [beta]-dystroglycan binds to a variety of cytoplasmic molecules, such as dystropin
, which in turn interacts with the cytoskeleton of cells.
DMD and BMD are both inherited in an X-linked recessive pattern resulting from mutations in the dystropin
gene on Xp21.
Affected males and female carriers are identified by the detection of duplicated or deleted exons in the dystropin
The absence of dystropin
is proposed to lead to sarcolemmal instability and muscle cell necrosis (21, 22).
4) Partial intragenic deletion or duplications of the dystropin
gene account for as much as 72% of the DMD/BMD cases [2-7].