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Blood. 1989 Aug 1;74(2):852-4.

Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age.

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Howard Hughes Medical Institute, University of California, San Francisco 94143.


We characterized the molecular defect in a Swiss patient with a spontaneous beta-thalassemia mutation. Cloning and DNA sequencing of her beta-globin gene revealed a new frameshift mutation due to a single nucleotide deletion at codon 64 of the beta-globin gene. Restriction site polymorphism showed that the mutation arose on her paternal chromosome. Direct sequencing of a polymerase chain reaction amplified DNA segment showed absence of the lesion in both alleles of her father's beta-globin gene and confirmed the spontaneous nature of this mutation.

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