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Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven
Mediterranean beta-thalassemia mutations by covalent reverse dot-blot
analysis: application to prenatal diagnosis in Sicily
A Maggio, A Giambona, SP Cai, J Wall, YW Kan and FF Chehab
Unita Sanitaria Locale N.60, Palermo, Sicily.
The molecular lesions causing beta-thalassemia in Sicily can be subdivided
into two groups. One that occurs at a 71% frequency and consists of the
beta 39, IVS 1,110 and IVS 1,6 mutations and the other group at a 20%
frequency comprising the -87, beta s, IVS 1,1 and IVS 2,745 mutations. The
identification of all these mutations by polymerase chain reaction (PCR)
and conventional dot-blot hybridization has been time consuming and
expensive. In this article, we describe the implementation of the reverse
dot-blot (RDB) hybridization as a rapid nonradioactive method for the
identification of the nine most frequent molecular lesions in the
beta-globin gene (-87, beta s, beta c, IVS 1,1, IVS 1,6, IVS 1,110, beta
39, IVS 2,1, IVS 2,745) in Sicily. Sixty prenatal diagnoses were performed
by this RDB assay, each of which was confirmed by dot-blot/ASO
hybridization; thus demonstrating the accuracy of the RDB. The main
advantage of this assay is the rapid typing of an individual's DNA for many
mutations in a single working day. Because the mutations in this assay are
representative for the Mediterranean region, this mutational panel can also
be extended to the screening of beta-thalassemia from other Mediterranean
regions.
Volume 81,
Issue 1,
pp. 239-242,
01/01/1993
Copyright © 1993 by The American Society of Hematology
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