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

نویسندگان

  • F F Chehab
  • K H Winterhalter
  • Y W Kan
چکیده

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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عنوان ژورنال:
  • Blood

دوره 74 2  شماره 

صفحات  -

تاریخ انتشار 1989