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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...

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Asıl Yazarlar: Kho, Siew Leng, Chua, Kek Heng, George, Elizabeth, Tan, Mary Anne Jin Ai
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Fundacao de Pesquisas Cientificas de Ribeirao Preto 2013
Online Erişim:http://psasir.upm.edu.my/id/eprint/29670/1/Specific%20and%20straightforward%20molecular%20investigation%20of%20%CE%B2.pdf
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spelling oai:psasir.upm.edu.my:29670 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
institution UPM IR
collection UPM IR
language English
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.
format Article
author Kho, Siew Leng
Chua, Kek Heng
George, Elizabeth
Tan, Mary Anne Jin Ai
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
author_facet Kho, Siew Leng
Chua, Kek Heng
George, Elizabeth
Tan, Mary Anne Jin Ai
author_sort Kho, Siew Leng
title 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_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_sort specific and straightforward molecular investigation of β-thalassemia mutations in the malaysian malays and chinese using direct taqman genotyping assays
publisher Fundacao de Pesquisas Cientificas de Ribeirao Preto
publishDate 2013
url http://psasir.upm.edu.my/id/eprint/29670/1/Specific%20and%20straightforward%20molecular%20investigation%20of%20%CE%B2.pdf
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score 13.4562235

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