Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations

© American Society for Clinical Pathology 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. BACKGROUND: Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases. MET...

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Main Authors: Sakorn Pornprasert, Rinradee Anurak, Chedtapak Ruengdit, Nattasit Pienthai, Monthathip Tookjai, Manoo Punyamung, Panida Pongpunyayuen
Format: Journal
Published: 2019
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/66586
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-665862019-09-16T12:56:17Z Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations Sakorn Pornprasert Rinradee Anurak Chedtapak Ruengdit Nattasit Pienthai Monthathip Tookjai Manoo Punyamung Panida Pongpunyayuen Biochemistry, Genetics and Molecular Biology Medicine © American Society for Clinical Pathology 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. BACKGROUND: Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases. METHODS: We evaluated the accuracy and practical utility of microarray for simultaneous detection of α- and β-thalassemias. A total of 102 DNA specimens, which represented 25 different genotypes, were tested in parallel using the microarray and reference methods used in the thalassemia laboratory of the Associated Medical Sciences-Clinical Services Center (AMS-CSC), Chiang Mai, Thailand. RESULTS: A total of 100 (98.0%) DNA specimens were completely concordant between the microarray and reference methods, whereas discrepancies between the different methods were observed in only 2 DNA specimens with homozygous hemoglobin E (HbE). CONCLUSIONS: The microarray appeared to be a fast, easy to perform, and accurate method for simultaneous detection of α- and β-thalassemias in Thailand and Southeast Asian countries. However, this technique needs to be improved and validated in a larger number of specimens with homozygous HbE before further routine laboratory use. 2019-09-16T12:47:25Z 2019-09-16T12:47:25Z 2019-07-16 Journal 19437730 2-s2.0-85069989400 10.1093/labmed/lmy087 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85069989400&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/66586
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Sakorn Pornprasert
Rinradee Anurak
Chedtapak Ruengdit
Nattasit Pienthai
Monthathip Tookjai
Manoo Punyamung
Panida Pongpunyayuen
Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations
description © American Society for Clinical Pathology 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. BACKGROUND: Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases. METHODS: We evaluated the accuracy and practical utility of microarray for simultaneous detection of α- and β-thalassemias. A total of 102 DNA specimens, which represented 25 different genotypes, were tested in parallel using the microarray and reference methods used in the thalassemia laboratory of the Associated Medical Sciences-Clinical Services Center (AMS-CSC), Chiang Mai, Thailand. RESULTS: A total of 100 (98.0%) DNA specimens were completely concordant between the microarray and reference methods, whereas discrepancies between the different methods were observed in only 2 DNA specimens with homozygous hemoglobin E (HbE). CONCLUSIONS: The microarray appeared to be a fast, easy to perform, and accurate method for simultaneous detection of α- and β-thalassemias in Thailand and Southeast Asian countries. However, this technique needs to be improved and validated in a larger number of specimens with homozygous HbE before further routine laboratory use.
format Journal
author Sakorn Pornprasert
Rinradee Anurak
Chedtapak Ruengdit
Nattasit Pienthai
Monthathip Tookjai
Manoo Punyamung
Panida Pongpunyayuen
author_facet Sakorn Pornprasert
Rinradee Anurak
Chedtapak Ruengdit
Nattasit Pienthai
Monthathip Tookjai
Manoo Punyamung
Panida Pongpunyayuen
author_sort Sakorn Pornprasert
title Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations
title_short Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations
title_full Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations
title_fullStr Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations
title_full_unstemmed Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations
title_sort validation of microarray for the simultaneous detection of common α- and β-thalassemia gene mutations
publishDate 2019
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85069989400&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/66586
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