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Genetic diagnosis of factor V Leiden using heteroduplex technology

Bowen, Derrick John, Standen, G. R., Granville, S., Bowley, S., Wood, N. A. and Bidwell, J. 1997. Genetic diagnosis of factor V Leiden using heteroduplex technology. Thrombosis and Haemostasis 77 (1) , pp. 119-122.

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A new genetic test has been developed for detection of the mutation known as factor V Leiden. The test employs heteroduplex technology and comprises a single PCR reaction followed immediately by PCR product analysis. It therefore represents the minimum practical route from blood/tissue sample to genetic result. A cohort of 100 patients with a history of thrombosis have been screened using both the new heteroduplex test and a previously described PCR-restriction endonuclease test. Results gave 100% correlation: normals 75 (75%), heterozygotes 24 (24%) and homozygotes 1 (1%). The heteroduplex test has been shown to give straightforward diagnosis in three different analytical systems: standard polyacrylamide gel electrophoresis (PAGE), mini-gel PAGE and capillary electrophoresis. The latter system is semiautomated, therefore rapid through-put of large sample numbers is now possible.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Schattauer
ISSN: 0340-6245
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Last Modified: 04 Jun 2017 06:12

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