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Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites.

Blood - 15 Oct 1992

Chang J G, Chen P H, Chiou S S, Lee L S, Perng L I, Liu T C

Abstract excerpt

We developed a rapid and simple method to diagnose the molecular defects of beta-thalassemia in Chinese patients. This method involves the selective amplification of a DNA fragment from human beta globin gene with specific oligonucleotide primers, followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. To detect the 4-nucleotide deletion of...

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PMID: 1391961

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