Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction: a multicenter study

Article Abstract:

The polymerase chain reaction (PCR) may be as effective as the Southern blot in detecting the various mutations in the dystrophin gene that cause muscular dystrophy. In addition, PCR can be packaged as a simple test kit that is cheaper, easier to store and quicker to perform. Fourteen laboratories were given PCR kits to analyze the DNA of patients with Duchenne and Becker muscular dystrophy. The results were compared to a Southern blot analysis. Of 745 samples, Southern blot detected a dystrophin mutation in 427, or 57%, and PCR detected a mutation in 346, or 46%. PCR detected 81% of the mutations detected by Southern blot analysis. Southern blot analysis is expensive, takes one to two weeks and uses radioactive chemicals. PCR takes five to eight hours and uses no radioactive chemicals. Each test kit should cost less than $20. None of the laboratories reported any problems using the kit.

Diagnosis, Muscular dystrophy, Becker muscular dystrophy

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DNA polymerase chain reaction for the diagnosis of vertical HIV infection

Article Abstract:

The polymerase chain reaction (PCR) appears to be very useful for detecting HIV in newborn infants of HIV-positive mothers. Regular HIV tests are not suitable in newborns because they detect antibodies to the virus. But the infant could have acquired these from the mother. PCR can detect viral DNA directly. A 1996 review of 32 studies of PCR HIV testing revealed that the test has a very low false-positive and false-negative rate, especially in infants older than one month. However, it is probably better to repeat the test. A suggested guideline is to test the infant at birth and every week thereafter. One positive test should be confirmed with another method of detecting HIV, such as viral culture. Early diagnosis can ensure prompt treatment of infants, which could delay the onset of symptoms. About 7,000 babies are born to HIV-infected women in the US every year.

Editorial, Testing, HIV infection in children, Pediatric HIV infections

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