Abstract
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 fragile X syndrome. Such additional bands are avoided by the use of HindIII instead of EcoRI. Therefore, we recommend the use of HindIII for the molecular diagnosis of fragile X syndrome.
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Received: 11 September 1997 / Accepted: 25 September 1997
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Storm, K., Handig, I., Reyniers, E. et al. Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome. Hum Genet 102, 54–56 (1998). https://doi.org/10.1007/s004390050653
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DOI: https://doi.org/10.1007/s004390050653