Factor V Leiden mutation screened by PCR and detected with lanthanide-labeled probes
| Autor: | David C. Rees, C G Potter, Yan-Tat Liu |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Genetics
education.field_of_study Staining and Labeling Oligonucleotide Population Mutant Factor V Biology Molecular biology Lanthanoid Series Elements Polymerase Chain Reaction United Kingdom law.invention law Molecular Probes Mutation Humans Factor V Leiden mutation Genetic Testing Restriction fragment length polymorphism education Molecular probe Allele frequency Genetics (clinical) Polymerase chain reaction |
| Zdroj: | Genetic testing. 5(4) |
| ISSN: | 1090-6576 |
| Popis: | The Factor V Leiden mutation is an important human polymorphism, responsible for increased risk of venous thrombosis in heterozygotes as well as homozygotes. Therefore, screening is a useful possibility, and many detection systems have been described for PCR products. We have developed a simplified and robust assay using oligonucleotide probes for normal and mutant sequences, labeled with europium and samarium, respectively, and measured by time-resolved fluorescence. Populations consisting of 233 Welsh and 148 Irish subjects were examined by both restriction fragment length polymorphism (RFLP) analysis and our assay. The allele frequency was 14/466 in the Welsh and 5/296 in the Irish population, in line with other surveys of European populations. Results were not obtained in 2/381 samples by RFLP, compared with 1/381 with our method. We conclude that our method represents an improved system capable of considerable throughput at reasonable cost. |
| Databáze: | OpenAIRE |
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