Studying dystrophin gene deletion in the northeast of China and applicating

To detect the distribution characteristics of dystrophin gene deletions of the DMD/BMD patients in the northeast of China and apply for prenatal gene diagnosis, we have analyzed the distribution of the breakpoints of the deleted-patients and the optimized primer-assembly after screening deletions of 120 DMD/BMD patients via multiplex PCR with 12-pair primers and male high-risk fetuses have been detected deletion by multiplex PCR. Results indicated the deletion frequency was 49.2%, about 66.4% deletion breakpoints positioned in introns 44-52, intron 50 was the highest breakpoint (14.8%). The optimized four-primer-assembly was the primers of exon 48, 51, 45 and 8, which could detect 41.7% deletions of all cases; 9 deletions male ones of 29 high-risk fetuses were detected, who had the same deletion-segments as their probands. For the first time screening deletions of DMD/BMD patients in the northeast of China, we have found distribution of the deletions mainly lied in two hot-spots, neighboring regions of exon 8 might be a real deletion 'hot spot' in this area compared with other areas of our country; introns 44-52 of dystrophin gene were highly unstable and prone to break: intron 44 was more stable than the whole molecular region of 'central deletion hot spot' and the unstability of intron 50 changed along with the regional and ethnic difference; the optimized primer-assembly provided the short-cut for detecting patients and making prenatal gene diagnosis, especially it's feasible and advantageous for the isolated pedigrees.