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Clinical Chemistry 44: 482-486, 1998;
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(Clinical Chemistry. 1998;44:482-486.)
© 1998 American Association for Clinical Chemistry, Inc.

Molecular Pathology and Genetics

Molecular beacons: a new approach for semiautomated mutation analysis

Belinda A. J. Giesendorf1,a, Jacqueline A. M. Vet3, Sanjay Tyagi3, Ewald J. M. G. Mensink2, Frans J. M. Trijbels1, and Henk J. Blom1

1 University Hospital Nijmegen, Departments of Pediatrics and
2 Haematology, Postbus 9101, 6500 HB Nijmegen, The Netherlands.

3 Public Health Research Institute, Department of Molecular Genetics, New York, NY 10016.
a Author for correspondence. Fax 31 24 3618900; e-mail B.Giesendorf{at}ckslkn.azn.nl.

Molecular beacons are oligonucleotide probes that become fluorescent upon hybridization. We designed molecular beacons to detect a point mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a mutation that has been related to an increased risk for cardiovascular disease and neural tube defects. The application of molecular beacons enables fast, semi- automated, accurate mutation detection. Moreover, the procedure is performed in a closed tube system, thereby avoiding carryover contamination. We believe these probes will find their way into nucleic acid research and diagnostics.




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