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The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia

Molecular characterization and prenatal diagnosis for beta-thalassemia can be carried out using the Amplification Refractory Mutation System (ARMS). The ARMS is a rapid and direct molecular technique in which beta-thalassemia mutations are visualized immediately after DNA amplification by gel electr...

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Main Authors: Chan, Yoke Fun, Tan, Kim Lim, Wong, Yean Ching, Wee, Yong Chui, Yap, Sook Fan, Tan, Mary Anne Jin Ai
Format: Article
Language:English
Published: SEAMEO Regional Tropical Medicine and Public Health Network 2001
Subjects:
R Medicine
Online Access:http://eprints.um.edu.my/7342/1/The_use_of_the_amplification_refractory_mutation_system_%28arms%29_in_the_detection_of_rare_beta-thalassemia_mutations_in_the_Malays_and_Chinese_in_Malaysia.pdf
http://eprints.um.edu.my/7342/
https://www.tm.mahidol.ac.th/seameo/2001-32-4/30-872-879.pdf
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spelling my.um.eprints.73422021-04-12T03:59:51Z http://eprints.um.edu.my/7342/ The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia Chan, Yoke Fun Tan, Kim Lim Wong, Yean Ching Wee, Yong Chui Yap, Sook Fan Tan, Mary Anne Jin Ai R Medicine Molecular characterization and prenatal diagnosis for beta-thalassemia can be carried out using the Amplification Refractory Mutation System (ARMS). The ARMS is a rapid and direct molecular technique in which beta-thalassemia mutations are visualized immediately after DNA amplification by gel electrophoresis. In the University of Malaya Medical Center, molecular characterization and prenatal diagnosis for beta-thalassemia is carried out using ARMS for about 96 of the Chinese and 84.6 of the Malay patients. The remaining 4 and 15.4 of the uncharacterized mutations in the Chinese and Malay patients respectively are detected using DNA sequencing. DNA sequencing is an accurate technique but it is more time-consuming and expensive compared with the ARMS. The ARMS for the rare Chinese beta-mutations at position -29 (A-->G) and the ATG-->AGG base substitution at the initiator codon for translation in the beta-gene was developed. In the Malays, ARMS was optimized for the beta-mutations at codon 8/9 (+G), Cap (+1) (A-->C) and the AATAAA-->AATAGA base substitution in the polyadenylation region of the beta-gene. The ARMS protocols were developed by optimization of the parameters for DNA amplification to ensure sensitivity, specificity and reproducibility. ARMS primers (sequences and concentration), magnesium chloride concentration, Taq DNA polymerase and PCR cycling parameters were optimized for the specific amplification of each rare beta-thalassemia mutation. The newly-developed ARMS for the 5 rare beta-thalassemia mutations in the Chinese and Malays in Malaysia will allow for more rapid and cost-effective molecular characterization and prenatal diagnosis for beta-thalassemia in Malaysia. SEAMEO Regional Tropical Medicine and Public Health Network 2001 Article PeerReviewed application/pdf en http://eprints.um.edu.my/7342/1/The_use_of_the_amplification_refractory_mutation_system_%28arms%29_in_the_detection_of_rare_beta-thalassemia_mutations_in_the_Malays_and_Chinese_in_Malaysia.pdf Chan, Yoke Fun and Tan, Kim Lim and Wong, Yean Ching and Wee, Yong Chui and Yap, Sook Fan and Tan, Mary Anne Jin Ai (2001) The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia. The Southeast Asian Journal of Tropical Medicine and Public Health, 32 (4). pp. 872-879. ISSN 0125-1562 https://www.tm.mahidol.ac.th/seameo/2001-32-4/30-872-879.pdf
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
language English
topic R Medicine
spellingShingle R Medicine
Chan, Yoke Fun
Tan, Kim Lim
Wong, Yean Ching
Wee, Yong Chui
Yap, Sook Fan
Tan, Mary Anne Jin Ai
The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia
description Molecular characterization and prenatal diagnosis for beta-thalassemia can be carried out using the Amplification Refractory Mutation System (ARMS). The ARMS is a rapid and direct molecular technique in which beta-thalassemia mutations are visualized immediately after DNA amplification by gel electrophoresis. In the University of Malaya Medical Center, molecular characterization and prenatal diagnosis for beta-thalassemia is carried out using ARMS for about 96 of the Chinese and 84.6 of the Malay patients. The remaining 4 and 15.4 of the uncharacterized mutations in the Chinese and Malay patients respectively are detected using DNA sequencing. DNA sequencing is an accurate technique but it is more time-consuming and expensive compared with the ARMS. The ARMS for the rare Chinese beta-mutations at position -29 (A-->G) and the ATG-->AGG base substitution at the initiator codon for translation in the beta-gene was developed. In the Malays, ARMS was optimized for the beta-mutations at codon 8/9 (+G), Cap (+1) (A-->C) and the AATAAA-->AATAGA base substitution in the polyadenylation region of the beta-gene. The ARMS protocols were developed by optimization of the parameters for DNA amplification to ensure sensitivity, specificity and reproducibility. ARMS primers (sequences and concentration), magnesium chloride concentration, Taq DNA polymerase and PCR cycling parameters were optimized for the specific amplification of each rare beta-thalassemia mutation. The newly-developed ARMS for the 5 rare beta-thalassemia mutations in the Chinese and Malays in Malaysia will allow for more rapid and cost-effective molecular characterization and prenatal diagnosis for beta-thalassemia in Malaysia.
format Article
author Chan, Yoke Fun
Tan, Kim Lim
Wong, Yean Ching
Wee, Yong Chui
Yap, Sook Fan
Tan, Mary Anne Jin Ai
author_facet Chan, Yoke Fun
Tan, Kim Lim
Wong, Yean Ching
Wee, Yong Chui
Yap, Sook Fan
Tan, Mary Anne Jin Ai
author_sort Chan, Yoke Fun
title The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia
title_short The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia
title_full The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia
title_fullStr The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia
title_full_unstemmed The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia
title_sort use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the malays and chinese in malaysia
publisher SEAMEO Regional Tropical Medicine and Public Health Network
publishDate 2001
url http://eprints.um.edu.my/7342/1/The_use_of_the_amplification_refractory_mutation_system_%28arms%29_in_the_detection_of_rare_beta-thalassemia_mutations_in_the_Malays_and_Chinese_in_Malaysia.pdf
http://eprints.um.edu.my/7342/
https://www.tm.mahidol.ac.th/seameo/2001-32-4/30-872-879.pdf
_version_ 1698697304701140992
score 13.211869

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