Article
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.
Human genetics - 1 Jan 1998
Storm K, Handig I, Reyniers E, Oostra B A, Kooy R F, Willems P J
Abstract excerpt
Molecular diagnosis of fragile X syndrome is usually performed using Southern blot analysis of DNA digested with EcoRI. In the course of diagnostic studies, we observed that a specific EcoRI restriction site in the fragile X gene (FMR1) is sometimes refractory to digestion, generating additional fragments on a Southern blot suggestive of a full mutation in FMR1. This may lead to a false-positive diagnosis of...
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