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A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur

SP Cai, JZ Zhang, DH Huang, ZX Wang and YW Kan

Department of Medicine, Howard Hughes Medical Institute, University of California, San Francisco 94143-0724.

We describe a simple approach for detecting beta-thalassemia mutations in geographic areas such as southern China where multiple mutations are known to occur. Segments of the beta-globin gene were amplified in vitro by using the polymerase chain reaction. Dot blot hybridization of the amplified DNA with oligonucleotide probes corresponding to the six mutations found in southern China could directly identify the mutations causing beta-thalassemia in the affected families. The increased number of target sequences after amplification allows the use of 35S-labeled probes, which are reusable for up to 3 months. The mutations can be determined in two days.

Volume 71, Issue 5, pp. 1357-1360, 05/01/1988
Copyright © 1988 by The American Society of Hematology


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