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Publication
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| Research Title |
Whole Blood PCR Assay for the Rapid Screening of Beta-thalassemia in Thailand |
| Date of Distribution |
2 November 2018 |
| Conference |
| Title of the Conference |
the LMCE 2018 (Laboratory Medicine Congress & Exhibition) & KSLM 59th Annual Meeting |
| Organiser |
Korean Society for Laboratory Medicine |
| Conference Place |
Grand Walkerhill Hotel, Seoul, Korea |
| Province/State |
South Korea |
| Conference Date |
1 November 2018 |
| To |
3 November 2018 |
| Proceeding Paper |
| Volume |
- |
| Issue |
- |
| Page |
- |
| Editors/edition/publisher |
- |
| Abstract |
Background: β-thalassemia is a heterogeneous genetic disorder commonly found among Southeast Asian
population. It is caused by an absence (β 0 ) or reduced (β + ) production of β-globin chain. In Thailand, more than
30 β-thalassemia mutations have been reported, but around 7 of them are common. Thus, identification of
β-thalassemia mutation is crucial for the prediction of the clinical outcome as well as for prenatal diagnosis.
This can be achieved by using PCR analysis, mostly on purified DNA. This can be costly, time-consuming, and
is not suitable for large-scale screening. We established a direct PCR method on whole blood specimens to
identify the 7 most common β-thalassemia mutations found in northeast Thailand.
Methods: Direct whole blood PCR was performed using a high pH PCR buffer by using 3 μl of whole blood
specimens. Three sets of multiplex PCR assays have been developed: set I (CD 41/42, CD 17 and NT-28), set II
(CD 71/72 and IVSI-5), and set III (IVSI-1 and IVSII-654). Methods were validated against routine assays in a
blind trial on 158 cases at a routine setting.
Results: The validation showed 100% concordant results with routine PCR analysis on purified DNA
specimens. β-thalassemia mutations were identified in 100 cases, including those with β 0 -thal CD 41/42 (n =
32), β 0 -thal CD 17 (n = 28), β + -thal NT-28 (n = 20), β 0 -thal CD 71/72 (n = 6), β 0 -thal IVSI-5 (n = 5), β 0 -thal
IVSI-1 (n = 6), and β 0 -thal IVSII-654 (n = 3).
Conclusions: Our developed whole blood PCR assays are simple, rapid, and reliable and do not require DNA
extraction step and could be applicable in routine setting as well as in large-scale population screening for
β-thalassemia in the region. |
| Author |
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| Peer Review Status |
มีผู้ประเมินอิสระ |
| Level of Conference |
นานาชาติ |
| Type of Proceeding |
Abstract |
| Type of Presentation |
Poster |
| Part of thesis |
true |
| Presentation awarding |
true |
| Award Title |
Travel Grant Award |
| Type of award |
รางวัลด้านวิชาการ วิชาชีพ |
| Organiser |
Korean Society for Laboratory Medicine |
| Date of awarding |
2 พฤศจิกายน 2561 |
| Attach file |
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| Citation |
0
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Journal Publication
ไทย