The spectrum of β-thalassemia mutations in Malaysia has been determined in 45 β-thalassemia chromosomes using dot blot hybridization of the polymerase chain reaction amplified DNA and direct DNA sequencing. Eleven different molecular defects, including those previously detected in Chinese, Asian Indians, and American blacks, and a novel frameshift mutation causing β°-thalassemia were detected. Since this novel mutation, a T deletion in codon 15 creates a new restriction site for Eco Rllenzyme; the mutation could be detected by Eco Rll digestion of the appropriate amplified fragment. The results of the present study provide additional information on the molecular heterogeneity of β-thalassemia in this population. We also demonstrated the nonradioactive detection method of the β-thalassemia mutation based upon the digoxigenin-labeled oligonucleotide probes.

Keywords:
Digoxigenin, Frameshift, codon 15, Globin gene, mutations, Oligonucleotide probe, Polymerase chain reaction
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© 1990 S. Karger AG, Basel
1990
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