Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.

doi:10.1007/s004390050653

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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...

Topics

Blotting, Southern
Deoxyribonuclease EcoRI
Deoxyribonuclease HindIII
False Positive Reactions
Fragile X Syndrome
Humans
Mutation
Restriction Mapping

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