Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography
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...
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| Other Authors: | , , , , , , , |
| Format: | article |
| Published: |
2006
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| Online Access: | http://hdl.handle.net/10725/6177 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.haematologica.org/content/91/9/1264.full.pdf+html |
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| Summary: | 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. |
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