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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/17496
Title: Reverse dot‐blot detection of Thai β‐thalassaemia mutations
Authors: PRANEE SUTCHARITCHAN
RANDALL SAIKI
SUTHAT FUCHAROEN
PRANEE WINICHAGOON
HENRY ERLICH
STEPHEN H. EMBURY
Chulalongkorn University
University of California, San Francisco
Roche Molecular Systems
Mahidol University
C.P. Li Biomedical Research Corporation
Keywords: Medicine
Issue Date: 1-Jan-1995
Citation: British Journal of Haematology. Vol.90, No.4 (1995), 809-816
Abstract: Summary. Pending curative therapy, newborn screening and prenatal diagnosis are essential to the management of (3 thalassaemia. Diagnosis using electrophoretic methods is difficult in the presence of composite phenotypes and high Hb F levels. Direct DNA detection of mutant alleles circumvents both problems, but the enormous diversity of β‐thalassaemia mutations poses challenges for this approach. Among PCR‐based tests, the reverse dot‐blot method enables screening several mutations with a single hybridization reaction. Unfortunately it has often been targeted to only the common mutations of a particular ethnic population, necessitating the use of more arduous detection methods for the less common mutations. We developed a reverse dot‐blot strip for the 10 β‐thalassaemia mutations, including the β‐thalassaemic haemoglobino‐pathies Hb E and Hb Malay, that account for 96% of j3 thalassaemia in Thailand, and another strip for six less common Thai mutations. The second strip precludes the need for more technically challenging methods. To avoid problems associated with secondary structure of amplified full‐length target DNA, we amplified and labelled β‐globin DNA as two shorter fragments that encompassed all known Thai mutations. Reverse dot‐blotting is a rapid, accurate method for detecting β‐thalassaemia mutations. Copyright © 1995, Wiley Blackwell. All rights reserved
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0029120890&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/17496
ISSN: 13652141
00071048
Appears in Collections:Scopus 1991-2000

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