Genetic diagnosis of factor V Leiden using heteroduplex technology.

Abstract:

: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.

journal_name

Thromb Haemost

authors

Bowen DJ,Standen GR,Granville S,Bowley S,Wood NA,Bidwell J

subject

Has Abstract

pub_date

1997-01-01 00:00:00

pages

119-22

issue

1

eissn

0340-6245

issn

2567-689X

journal_volume

77

pub_type

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