Publication: Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions
Issued Date
2007-05-01
Resource Type
ISSN
14374331
14346621
14346621
Other identifier(s)
2-s2.0-34248219090
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Mahidol University
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SCOPUS
Bibliographic Citation
Clinical Chemistry and Laboratory Medicine. Vol.45, No.5 (2007), 605-610
Suggested Citation
Helene Puehringer, Hossein Najmabadi, Hai Yang Law, Walter Krugluger, Vip Viprakasit, Serge Pissard, Erol Baysal, Ali Taher, Chantal Farra, Amein Al-Ali, Suad Al-Ateeq, Christian Oberkanins Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions. Clinical Chemistry and Laboratory Medicine. Vol.45, No.5 (2007), 605-610. doi:10.1515/CCLM.2007.125 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/24207
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Title
Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions
Other Contributor(s)
ViennaLab Diagnostics GmbH
University of Social Welfare and Rehabilitation Sciences
KK Women's And Children's Hospital
Rudolfstifung Hospital
Mahidol University
Hopital Henri Mondor
Genetics Department
American University of Beirut Medical Center
Chronic Care Center, Hazmieh
Imam Abdulrahman Bin Faisal university
University of Social Welfare and Rehabilitation Sciences
KK Women's And Children's Hospital
Rudolfstifung Hospital
Mahidol University
Hopital Henri Mondor
Genetics Department
American University of Beirut Medical Center
Chronic Care Center, Hazmieh
Imam Abdulrahman Bin Faisal university
Abstract
Background: α-Thalassemia is a worldwide disease and considered to be a major public health problem in countries within the so-called thalassemia belt. The complex genetics of α-thalassemias requires diagnostic methods with the capacity to screen rapidly and accurately for common causative mutations. Methods: We developed and validated a reverse-hybridization assay (Alpha-Globin StripAssay) for the rapid and simultaneous detection of 21 α-globin mutations: two single gene deletions (-α3.7; -α4.2), five double gene deletions [ -MED; -SEA; -THAI; -FIL; -(α)20.5], αααanti-3.7gene triplication, two point mutations in the α1 gene (cd 14 G>A; Hb Adana) and 11 point mutations in the α2 gene (initiation cd T>C; cd 19 -G; IVS1 -5nt; cd 59 G>A; Hb Quong Sze; Hb Constant Spring; Hb Icaria; Hb Pakse; Hb Koya Dora; polyA-1; polyA-2). Results: Reliable genotyping of recombinant mutant clones and reference DNA samples was achieved by means of two corresponding test strips presenting parallel arrays of allele-specific oligonucleotides. The entire procedure from blood sampling to the identification of mutations required less than 6 h, and hybridization/detection was manual or automated. The diagnostic potential of this Alpha-Globin StripAssay was carefully evaluated on 272 pre-typed samples in a multicenter validation study. In 96.14% of the cases, StripAssay typing was completely concordant with the reference methods. Conclusions: The Alpha-Globin StripAssay proved to be a fast, easy-to-perform and reliable screening method to identify >90% of α-globin mutations in endemic areas worldwide. ©2007 by Walter de Gruyter.