Title |
Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays
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Published in |
Genetics and Molecular Research, January 2013
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DOI | 10.4238/2013.february.28.4 |
Pubmed ID | |
Authors |
S L Kho, K H Chua, E George, J A M A Tan |
Abstract |
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. |
Mendeley readers
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Country | Count | As % |
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Demographic breakdown
Readers by professional status | Count | As % |
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Other | 2 | 14% |
Researcher | 2 | 14% |
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Student > Master | 1 | 7% |
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Unknown | 5 | 36% |