Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations
| Autor: | Lluís Puig, Elisenda Farssac, Francisco Vidal, Carme Altisent, Dominique Gallardo |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Genetics
Mutation Electronic Data Processing Nucleic acid sequence Hematology Sequence Analysis DNA Biology Haemophilia medicine.disease medicine.disease_cause Hemophilia B Sensitivity and Specificity DNA sequencing Factor IX medicine Humans Haemophilia B Sample collection Genetic Testing Gene medicine.drug Hair |
| Zdroj: | British journal of haematology. 111(2) |
| ISSN: | 0007-1048 |
| Popis: | We have developed a simple, sensitive and cost-effective direct DNA sequencing procedure for the molecular diagnosis of haemophilia B. All factor IX gene essential regions were amplified under identical thermocycling parameters allowing mutation identification in less than 15 h from blood sample collection. Identical results in terms of accuracy and speed were obtained when using a single hair as the source of DNA. Using this approach, we have found mutations in 10 out of 10 haemophilia B patients, two of which are novel (P287T and S123C). Very suitable for individual studies, this procedure can be easily scaled up for higher throughput. |
| Databáze: | OpenAIRE |
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