| Autor: |
Kho SL; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Chua KH, George E, Tan JA |
| Jazyk: |
angličtina |
| Zdroj: |
Genetics and molecular research : GMR [Genet Mol Res] 2013 Jul 15; Vol. 12 (3), pp. 2409-15. Date of Electronic Publication: 2013 Jul 15. |
| DOI: |
10.4238/2013.February.28.4 |
| Abstrakt: |
Beta-thalassemia is a life-threatening inherited blood disorder. Rapid characterization of β-globin gene mutations is necessary because of the high frequency of Malaysian β-thalassemia carriers. A combination real-time polymerase chain reaction genotyping assay using TaqMan probes was developed to confirm β-globin gene mutations. In this study, primers and probes were designed to specifically identify 8 common β-thalassemia mutations in the Malaysian Malay and Chinese ethnic groups using the Primer Express software. "Blind tests" using DNA samples from healthy individuals and β-thalassemia patients with different genotypes were performed to determine the specificity and sensitivity of this newly designed assay. Our results showed 100% sensitivity and specificity for this novel assay. In conclusion, the TaqMan genotyping assay is a straightforward assay that allows detection of β-globin gene mutations in less than 40 min. The simplicity and reproducibility of the TaqMan genotyping assay permit its use in laboratories as a rapid and cost-effective diagnostic tool for confirmation of common β-thalassemia mutations in Malaysia. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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