Genetic Diagnosis of Factor V Leiden Using Heteroduplex Technology

Autor:	Jeffrey L. Bidwell, S. Granville, Nigel Wood, S. Bowley, Derrick John Bowen, Graham R. Standen
Rok vydání:	1997
Předmět:	Genetics Tissue sample Hematology Biology medicine.disease Molecular biology law.invention Capillary electrophoresis law Mutation (genetic algorithm) Factor V Leiden medicine Genetic diagnosis Polyacrylamide gel electrophoresis Polymerase chain reaction Heteroduplex
Zdroj:	Thrombosis and Haemostasis. 77:119-122
ISSN:	2567-689X 0340-6245
Popis:	SummaryA 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::8da0b6f191bea4a6c68d1a376f4d59b4 https://doi.org/10.1055/s-0038-1655917 Zobrazit plný text záznamu