| Autor: |
Zai-fu, Jian, Fa-qing, Tang, Fang-ping, Chen, Qin-zhi, Xie, Guang-ping, Wang |
| Rok vydání: |
2008 |
| Předmět: |
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| Zdroj: |
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. 33(2) |
| ISSN: |
1672-7347 |
| Popis: |
To explore the molecular mechanism of Glanzmann thrombasthenia (GT).All 45 exons of alphaIIb and beta3 subunit genes as well as their splicing sites were amplified by polymerase chain reaction(PCR) with 40 primer pairs, and then the PCR products were used to screen the gene mutation by single strand conformation polymorphism-polyacrylamide gel electrophoresis (SSCP-PAGE). The mutation was further confirmed by direct DNA sequencing.A DNA band alterated migration was detected after SSCP-PAGE. DNA sequencing showed that a base deletion within the band at the site of 540 in GPIIb gene(540A) was found.The frame-shift mutation caused by the deletion of 540A in GPIIb gene is a novel mutation which is a genetic defect in patients with GT. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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