Publication: Reverse dot‐blot detection of Thai β‐thalassaemia mutations
Issued Date
1995-01-01
Resource Type
ISSN
13652141
00071048
00071048
Other identifier(s)
2-s2.0-0029120890
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
British Journal of Haematology. Vol.90, No.4 (1995), 809-816
Suggested Citation
PRANEE SUTCHARITCHAN, RANDALL SAIKI, SUTHAT FUCHAROEN, PRANEE WINICHAGOON, HENRY ERLICH, STEPHEN H. EMBURY Reverse dot‐blot detection of Thai β‐thalassaemia mutations. British Journal of Haematology. Vol.90, No.4 (1995), 809-816. doi:10.1111/j.1365-2141.1995.tb05200.x Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/17496
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Title
Reverse dot‐blot detection of Thai β‐thalassaemia mutations
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