Rapid Sequencing Test Detects Most Cases of Muscular Dystrophy

A new diagnostic test has been developed that detects the most common form of muscular dystrophy, Duchenne muscular dystrophy (DMD), in at least 95% of cases, a far higher success rate than that of the currently available test. The finding was reported in the April 2003 issue of The American Journal of Human Genetics.

Investigators at the University of Utah (Salt Lake City, USA) reported that the new test, single condition amplification/internal primer sequencing (SCAIP), could detect DMD in the 35% of cases that are missed by current testing methods.

Muscular dystrophy occurs when a mutation in the dystrophin gene on the X chromosome interferes with the production of the dystrophin protein. DMD occurs only in boys once in every 3,500 live births. The currently used diagnostic test detects missing exons on the dystrophin gene. However, in about 35% of cases, DMD occurs with no missing exons. SCAIP, based on a polymerase chain reaction (PCR) followed by direct rapid sequence analysis, detects these cases.

”We have developed the ability to rapidly look for genetic variations in the entire gene,” explained senior author Dr. Kevin M. Flanigan, assistant professor of human genetics and of neurology at the University of Utah School of Medicine. "In combination with previous tests that show large duplications in the gene, it will allow us to detect essentially all mutations in the gene.”






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