Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays
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 c...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Fundacao de Pesquisas Cientificas de Ribeirao Preto
2013
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| Online Access: | http://psasir.upm.edu.my/id/eprint/29670/ http://psasir.upm.edu.my/id/eprint/29670/1/Specific%20and%20straightforward%20molecular%20investigation%20of%20%CE%B2.pdf |
| _version_ | 1848846463462801408 |
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| author | Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai |
| author_facet | Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai |
| author_sort | Kho, Siew Leng |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-15T09:03:07Z |
| format | Article |
| id | upm-29670 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T09:03:07Z |
| publishDate | 2013 |
| publisher | Fundacao de Pesquisas Cientificas de Ribeirao Preto |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-296702016-11-30T02:28:10Z http://psasir.upm.edu.my/id/eprint/29670/ Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai 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. Fundacao de Pesquisas Cientificas de Ribeirao Preto 2013-07-15 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/29670/1/Specific%20and%20straightforward%20molecular%20investigation%20of%20%CE%B2.pdf Kho, Siew Leng and Chua, Kek Heng and George, Elizabeth and Tan, Mary Anne Jin Ai (2013) Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays. Genetics and Molecular Research, 12 (3). pp. 2409-2415. ISSN 1676-5680 http://www.geneticsmr.com/articles/2116 10.4238/2013.February.28.4 |
| spellingShingle | Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays |
| title | Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays |
| title_full | Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays |
| title_fullStr | Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays |
| title_full_unstemmed | Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays |
| title_short | Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays |
| title_sort | specific and straightforward molecular investigation of β-thalassemia mutations in the malaysian malays and chinese using direct taqman genotyping assays |
| url | http://psasir.upm.edu.my/id/eprint/29670/ http://psasir.upm.edu.my/id/eprint/29670/ http://psasir.upm.edu.my/id/eprint/29670/ http://psasir.upm.edu.my/id/eprint/29670/1/Specific%20and%20straightforward%20molecular%20investigation%20of%20%CE%B2.pdf |