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Publication
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| Title of Article |
Direct amplification of whole blood and amniotic fluid specimens for prenatal and postnatal diagnosis of Hb E-β0-thalassemia diseases |
| Date of Acceptance |
11 December 2020 |
| Journal |
| Title of Journal |
Lab Medicine |
| Standard |
ISI |
| Institute of Journal |
ASCP and Oxford University Press |
| ISBN/ISSN |
- |
| Volume |
- |
| Issue |
- |
| Month |
- |
| Year of Publication |
2020 |
| Page |
- |
| Abstract |
Introduction: Prenatal and postnal diagnosis of Hb E-β0-thalassemia can be done by PCR analysis mostly on purified DNA. We have established a
direct amplification method without DNA extraction on whole blood and amniotic fluid specimens to diagnose the disease.
Methods: Three sets of whole blood PCR assays and seven sets of amniotic fluid PCR were developed for postnatal and prenatal diagnosis,
respectively. Assays were validated against routine tests in a blind trial.
Results: The results showed 100% concordance with routine DNA PCR assays. Among 309 β-thalassemia carriers, 191 cases (61.8%) carried
common β-thalassemia mutations. Among 448 amniotic fluid specimens, 116 (25.9%) fetuses were found to be affected while 247 (55.1%)
fetuses were carriers and 85 (19%) fetuses were unaffected.
Conclusion: Whole blood and amniotic fluid PCR assays are simple, rapid, and reliable. The developed techniques could be applicable in routine settings. |
| Keyword |
Direct amplification, Whole blood, Amniotic fluid, Carrier identification, Prenatal diagnosis, Hb E-β0-thalassemia |
| Author |
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| Reviewing Status |
มีผู้ประเมินอิสระ |
| Status |
ได้รับการตอบรับให้ตีพิมพ์ |
| Level of Publication |
นานาชาติ |
| citation |
false |
| Part of thesis |
true |
| Attach file |
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| Citation |
0
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Journal Publication
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