Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-01

AUTHORS

Katrien Storm, Ingrid Handig, Edwin Reyniers, B. A. Oostra, R. Frank Kooy, P. J. Willems

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. More... »

PAGES

54-56

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390050653

DOI

http://dx.doi.org/10.1007/s004390050653

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1001075358

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9490298


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