| Autor: |
Anna, Pavlova, Osman, El-Maarri, Beate, Luxembourg, Edelgard, Lindhoff-Last, Lothar, Kochhan, Hans-Dietrich, Bruhn, Daniel, Delev, Matthias, Watzka, Erhard, Seifried, Johannes, Oldenburg |
| Rok vydání: |
2006 |
| Předmět: |
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| Zdroj: |
Haematologica. 91(9) |
| ISSN: |
1592-8721 |
| Popis: |
The present study reports a method for the easy, rapid and cost effective detection of heterozygous large deletions. As a model gene all exons of the antithrombin gene were amplified in a one tube multiplex polymerase chain reaction (PCR) and the products separated according to their size by reverse-phase ion-pair high performance liquid chromatography. A significant reduction in the height of a peak in the probandOs sample compared to in the control indicates the presence of a large deletion of the corresponding allele. Using this approach we identified heterozygous deletions in four patients: the deletions affected exons 1 and 2, exon 7 and the whole antithrombin gene. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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