PubMed · 8753182
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
K Fukutake, T Sato. 1995. [Factor V].. https://pubmed.ncbi.nlm.nih.gov/8753182/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
There is currently no means of identifying the subgroup of APL patients who will succumb to haemorrhagic or thrombotic complications. We have investigated factor V Leiden and thermolabile methylene tetrahydrofolate reductase (MTHFR) to determine whether these are of predictive value for thrombosis in the context of APL. Of 48 patients drawn from the MRC ATRA trial, two were heterozygous for factor V Leiden (allele frequency 2.1%). 10 homozygotes and 17 heterozygotes for thermolabile MTHFR were identified (allele frequency 38.5%). Amongst these patients, one thrombosis occurred (thermolabile MTHFR heterozygote). In the group with no identified increased thrombotic risk, three episodes were recorded. This approach failed to predict thrombotic events in APL, although the exact implications of specific genotypes remain to be established by larger studies.
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.
Explore the source record for details and available documents.