Detection of α-thalassemia of southeast asian (<sup>-SEA</sup>) deletion by novel multiplex PCR

© JOURNAL OF THE MEDICAL ASSOCIATION OF THAILAND. Background: Southeast Asian (-SEA) deletion of α-thalassemia is the most common α-thalassemia-1 mutation in Thailand and neighborhood countries. The absence of α-globin gene production in a homozygous fetus is the most serious and leads to death in u...

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Main Authors: Wirawit Piyamongkol, Supranee Upanan, Sirivipa Piyamongkol, Pimlak Charoenkwan, Theera Tongsong
Format: Journal
Published: 2020
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/70791
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-707912020-10-14T08:41:27Z Detection of α-thalassemia of southeast asian (<sup>-SEA</sup>) deletion by novel multiplex PCR Wirawit Piyamongkol Supranee Upanan Sirivipa Piyamongkol Pimlak Charoenkwan Theera Tongsong Medicine © JOURNAL OF THE MEDICAL ASSOCIATION OF THAILAND. Background: Southeast Asian (-SEA) deletion of α-thalassemia is the most common α-thalassemia-1 mutation in Thailand and neighborhood countries. The absence of α-globin gene production in a homozygous fetus is the most serious and leads to death in utero or soon after birth and life-threatening maternal complications. Therefore, sensitive and accurate assays for detecting α-thalassemia-SEA deletion are crucial for thalassemia diagnosis.Materials and Methods: The present study evaluated multiplex polymerase chain reaction (PCR)-SEA, comparing with the routinely performed gap-PCR for α-thalassemia diagnosis in prenatal thalassemia prevention and control strategy commonly used in Thailand. Four primers were employed to detect the deleted region of α-globin gene family. This, thus, provides high accuracy in discriminating heterozygous and homozygous -SEA deletion. Results: Multiplex PCR-SEA assay showed the results with 100% sensitivity, specificity, positive predictive value, negative predictive value, and efficiency in comparison to the routinely performed gap-PCR used in prenatal thalassemia prevention and control strategy. In addition, the multiplex PCR-SEA assay displayed lower detection limit for heterozygous detection. Conclusion: The novel multiplex PCR-SEA in the present study was proofed to be a good alternative for thalassemia diagnosis in thalassemia prevention and control strategy. The advantage of the assay is the capability to identify three wild types and one deleted fragment comparing with one wild type and one deleted fragment in the routinely performed gap-PCR. This is very useful, especially in the genes where polymorphism is common. Therefore, the multiplex PCR-SEA provides a better protocol for α-thalassemia-SEA diagnosis. 2020-10-14T08:41:27Z 2020-10-14T08:41:27Z 2020-08-01 Journal 01252208 2-s2.0-85089948309 10.35755/jmedassocthai.2020.08.11126 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85089948309&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/70791
institution Chiang Mai University
building Chiang Mai University Library
continent Asia
country Thailand
Thailand
content_provider Chiang Mai University Library
collection CMU Intellectual Repository
topic Medicine
spellingShingle Medicine
Wirawit Piyamongkol
Supranee Upanan
Sirivipa Piyamongkol
Pimlak Charoenkwan
Theera Tongsong
Detection of α-thalassemia of southeast asian (<sup>-SEA</sup>) deletion by novel multiplex PCR
description © JOURNAL OF THE MEDICAL ASSOCIATION OF THAILAND. Background: Southeast Asian (-SEA) deletion of α-thalassemia is the most common α-thalassemia-1 mutation in Thailand and neighborhood countries. The absence of α-globin gene production in a homozygous fetus is the most serious and leads to death in utero or soon after birth and life-threatening maternal complications. Therefore, sensitive and accurate assays for detecting α-thalassemia-SEA deletion are crucial for thalassemia diagnosis.Materials and Methods: The present study evaluated multiplex polymerase chain reaction (PCR)-SEA, comparing with the routinely performed gap-PCR for α-thalassemia diagnosis in prenatal thalassemia prevention and control strategy commonly used in Thailand. Four primers were employed to detect the deleted region of α-globin gene family. This, thus, provides high accuracy in discriminating heterozygous and homozygous -SEA deletion. Results: Multiplex PCR-SEA assay showed the results with 100% sensitivity, specificity, positive predictive value, negative predictive value, and efficiency in comparison to the routinely performed gap-PCR used in prenatal thalassemia prevention and control strategy. In addition, the multiplex PCR-SEA assay displayed lower detection limit for heterozygous detection. Conclusion: The novel multiplex PCR-SEA in the present study was proofed to be a good alternative for thalassemia diagnosis in thalassemia prevention and control strategy. The advantage of the assay is the capability to identify three wild types and one deleted fragment comparing with one wild type and one deleted fragment in the routinely performed gap-PCR. This is very useful, especially in the genes where polymorphism is common. Therefore, the multiplex PCR-SEA provides a better protocol for α-thalassemia-SEA diagnosis.
format Journal
author Wirawit Piyamongkol
Supranee Upanan
Sirivipa Piyamongkol
Pimlak Charoenkwan
Theera Tongsong
author_facet Wirawit Piyamongkol
Supranee Upanan
Sirivipa Piyamongkol
Pimlak Charoenkwan
Theera Tongsong
author_sort Wirawit Piyamongkol
title Detection of α-thalassemia of southeast asian (<sup>-SEA</sup>) deletion by novel multiplex PCR
title_short Detection of α-thalassemia of southeast asian (<sup>-SEA</sup>) deletion by novel multiplex PCR
title_full Detection of α-thalassemia of southeast asian (<sup>-SEA</sup>) deletion by novel multiplex PCR
title_fullStr Detection of α-thalassemia of southeast asian (<sup>-SEA</sup>) deletion by novel multiplex PCR
title_full_unstemmed Detection of α-thalassemia of southeast asian (<sup>-SEA</sup>) deletion by novel multiplex PCR
title_sort detection of α-thalassemia of southeast asian (<sup>-sea</sup>) deletion by novel multiplex pcr
publishDate 2020
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85089948309&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/70791
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