Detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay

We developed two sets of a multiplex amplification refractory mutation system (M-ARMS) assay to identify specific β-thalassemia (β-thal) mutations that are common in Thailand. The first one was for the detection of mutants with codon 17 (A>T), IV S-I-1 (G >T)), codons 41/42 (-TCT T) and codons...

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Main Authors: Saisiri Mirasena, Dawan Shimbhu, Mondhon Sanguansermsri, Torpong Sanguansermsri
Format: Journal
Published: 2018
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spelling th-cmuir.6653943832-601622018-09-10T03:46:12Z Detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay Saisiri Mirasena Dawan Shimbhu Mondhon Sanguansermsri Torpong Sanguansermsri Biochemistry, Genetics and Molecular Biology Medicine We developed two sets of a multiplex amplification refractory mutation system (M-ARMS) assay to identify specific β-thalassemia (β-thal) mutations that are common in Thailand. The first one was for the detection of mutants with codon 17 (A>T), IV S-I-1 (G >T)), codons 41/42 (-TCT T) and codons 71/72 (+A), while the second one was for the -87 (C>A), -28 (A>G) and IVS-II-654 (C>T). Application of the proposed assay to 282 persons with β-thal trait revealed a positive result in 276 cases (97.8%). There were 258 cases (91.5%) positive for the set 1 M-ARMS assay and 18 cases (6.4%) were positive for set 2. Six cases (2.2%) were negative for both sets 1 and 2, and were further characterized by DNA sequencing. The mutations detected by the set 1 M-ARMS assay were 113 cases (40.1%) of codons 41/42, 95 (33.7%) of codon 17, 41 (14.5%) of IVS-I-1 and nine cases (3.2%) of codons 71/72, while by set 2 there were 12 cases (4.2%) of -28, four cases(1.4%) of -87 and two cases (0.7%) of IVS-II-654. Mutations undetectable by M-ARMS assay were two cases of codons 27/28 (+C), one case of codon 35 (C>A), one of codon 43 (G>T), one of -31 (A>G) and one of IVS-I-5 (C>G). The M-ARMS assay proved to be a valuable tool for the analysis of β-thal mutations. The method is robust, accurate, simple, speedy and cost-effective. The application of this assay will facilitate genetic counseling and prenatal diagnosis for severe thalassemia in high-risk pregnancies. Copyright © Informa Healthcare USA, Inc. 2018-09-10T03:38:51Z 2018-09-10T03:38:51Z 2008-07-01 Journal 1532432X 03630269 2-s2.0-47949088545 10.1080/03630260701798391 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=47949088545&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/60162
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
Saisiri Mirasena
Dawan Shimbhu
Mondhon Sanguansermsri
Torpong Sanguansermsri
Detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay
description We developed two sets of a multiplex amplification refractory mutation system (M-ARMS) assay to identify specific β-thalassemia (β-thal) mutations that are common in Thailand. The first one was for the detection of mutants with codon 17 (A>T), IV S-I-1 (G >T)), codons 41/42 (-TCT T) and codons 71/72 (+A), while the second one was for the -87 (C>A), -28 (A>G) and IVS-II-654 (C>T). Application of the proposed assay to 282 persons with β-thal trait revealed a positive result in 276 cases (97.8%). There were 258 cases (91.5%) positive for the set 1 M-ARMS assay and 18 cases (6.4%) were positive for set 2. Six cases (2.2%) were negative for both sets 1 and 2, and were further characterized by DNA sequencing. The mutations detected by the set 1 M-ARMS assay were 113 cases (40.1%) of codons 41/42, 95 (33.7%) of codon 17, 41 (14.5%) of IVS-I-1 and nine cases (3.2%) of codons 71/72, while by set 2 there were 12 cases (4.2%) of -28, four cases(1.4%) of -87 and two cases (0.7%) of IVS-II-654. Mutations undetectable by M-ARMS assay were two cases of codons 27/28 (+C), one case of codon 35 (C>A), one of codon 43 (G>T), one of -31 (A>G) and one of IVS-I-5 (C>G). The M-ARMS assay proved to be a valuable tool for the analysis of β-thal mutations. The method is robust, accurate, simple, speedy and cost-effective. The application of this assay will facilitate genetic counseling and prenatal diagnosis for severe thalassemia in high-risk pregnancies. Copyright © Informa Healthcare USA, Inc.
format Journal
author Saisiri Mirasena
Dawan Shimbhu
Mondhon Sanguansermsri
Torpong Sanguansermsri
author_facet Saisiri Mirasena
Dawan Shimbhu
Mondhon Sanguansermsri
Torpong Sanguansermsri
author_sort Saisiri Mirasena
title Detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay
title_short Detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay
title_full Detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay
title_fullStr Detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay
title_full_unstemmed Detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay
title_sort detection of β-thalassemia mutations using a multiplex amplification refractory mutation system assay
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=47949088545&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/60162
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