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.
Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age
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FF Chehab, KH Winterhalter, YW Kan; Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age. Blood 1989; 74 (2): 852–854. doi: https://doi.org/10.1182/blood.V74.2.852.bloodjournal742852
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