Analysis of deletions in the dystrophin gene in patients with Duchenne muscular dystrophy in Bashkortostan

The deletion spectrum and distribution of deletion breakpoints (DBs) in 36 patients with Duchenne muscular dystrophy (DMD) from 33 families and in thr ee patients with Becker muscular dystrophy (BMD) from one family from Bashk ortostan were studied by amplifying 20 exons of the dystrophin gene by mult iplex polymerase chain reaction (mPCR). Eight out of 34 unrelated DMD (BMD) patients (23.2%) were shown to carry a deletion varying in size from one t o seven exons. Most DBs (15 out of 16, 93.7%) were in the distal region of the gene, commonly between exons 44-45, 45-47, and 50-52. Thus, high-polymo rphic intergenic markers located in introns 44 (STR 44), 45 (STR 45), 49 (S TR 49), and 50 (STR 50) can be used for indirect or direct carrier detectio n among women closely related to DMD patients that carry a deletion with DB located between exons 44-45, 45-47, and 50-52. Prenatal diagnosis of DMD i s also possible in these families.